(used for variant description)
(last modified May 8, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_001029882.2 in the AHDC1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering AHDC1 transcript NM_001029882.2.
(upstream sequence)
g.5009
tgatcgagg c.-961
. . . . . . g.5069
tgggggggcgccgcgggagcggggggccgtgtccagcggagttagcggcggagaatgtga c.-901
. . . . . . g.5129
gccgaggcgcgagccatgctgtcagcgacggcgggcggctcagggctcctccacgactcc c.-841
. . . . . . g.5189
tctcctcagcagccgggcgcccgcgtcgctgccaccgccggaagacagacgtcccccaaa c.-781
. . . . . | 02 . g.49762
acccctcgcctggctcggacccacggagccggcagcccagcactccg | atgggagcttgcc c.-721
. . . . . . g.49822
tgattgtcaacccatcggcctggaccccagagcccacccagttgagcgtgtgcagagggc c.-661
. . . . . . g.49882
cccgagtgcggggcgacgctcaggccgttgcagagaccaccctggagatgctgatgaaga c.-601
. . . . . | 03 . g.50117
caggcctttcctgctgagcccagcctatcttcgcagcctgctcag | aaaggggaactgagg c.-541
. . . . . . g.50177
ctcatggatatacagtgagtcctacctcctagcctgaggactcttccctgcgccttgatg c.-481
. . . . . . g.50237
acctgagagaactgggaggagaaaggggttgtgacaatgaccaggactcagggcagaggt c.-421
. . . . . . g.50297
ggaaaccagagtgcctgatgtgtgcagctgctgacccccccaggacacctctctaccgga c.-361
. . . . | 04 . . g.55371
gtctgtggaagcagagaactgggaggccaag | gattggtatgaagaattaaatgaaacgat c.-301
. . . . . . g.55431
gcctggacagcttccagcccagtacctggcgcgcagtaggtgctcactaaacctgagctg c.-241
. . . . . . g.55491
cgatggtcctttccaggcgctgtccacgccccgaggcctgggctcaggccgaagttgctc c.-181
. . . . . . g.55551
cacagcacccccagctgacagccagcgactggcagagcccccaggcacgggggccctctc c.-121
. | 05. . . . | 06 . g.56457
tcttccag | agatctccagtgtgacagcccaggcggcagagccgagg | gtcctggtcccggc c.-61
. . . . . . g.56517
ttctcgcaccctcatgtcagccccggccccgcccggcggcctgcggaggacaaggtcagg c.-1
. . . . . . g.56577
ATGCGTGTGAAGCCCCAGGGCCTGGTGGTGACTTCCAGTGCCGTGTGCAGCTCTCCTGAC c.60
M R V K P Q G L V V T S S A V C S S P D p.20
. . . . . . g.56637
TACCTCCGGGAACCCAAGTACTACCCCGGCGGCCCCCCCACCCCCCGGCCCCTGCTTCCC c.120
Y L R E P K Y Y P G G P P T P R P L L P p.40
. . . . . . g.56697
ACCCGGCCCCCTGCCAGCCCACCTGACAAGGCCTTCTCCACCCACGCCTTCTCCGAGAAC c.180
T R P P A S P P D K A F S T H A F S E N p.60
. . . . . . g.56757
CCACGCCCACCCCCACGCCGGGACCCCAGCACCCGGCGCCCACCAGTCCTTGCCAAGGGG c.240
P R P P P R R D P S T R R P P V L A K G p.80
. . . . . . g.56817
GACGACCCGCTGCCCCCACGGGCAGCCCGTCCTGTCTCACAGGCCCGCTGCCCCACACCG c.300
D D P L P P R A A R P V S Q A R C P T P p.100
. . . . . . g.56877
GTCGGAGACGGCAGCAGCTCCCGACGCTGCTGGGACAACGGGCGGGTGAACCTGCGACCA c.360
V G D G S S S R R C W D N G R V N L R P p.120
. . . . . . g.56937
GTGGTGCAGCTGATTGACATCATGAAGGACCTGACACGCCTCTCCCAGGACCTGCAGCAC c.420
V V Q L I D I M K D L T R L S Q D L Q H p.140
. . . . . . g.56997
AGTGGTGTACACCTGGACTGTGGTGGGCTCCGACTGAGCCGCCCGCCTGCACCGCCACCC c.480
S G V H L D C G G L R L S R P P A P P P p.160
. . . . . . g.57057
GGCGACCTACAGTACAGCTTCTTCTCCTCACCCAGTTTGGCCAACAGCATCCGTAGCCCT c.540
G D L Q Y S F F S S P S L A N S I R S P p.180
. . . . . . g.57117
GAGGAGCGGGCCACCCCACACGCCAAGTCGGAGCGGCCCAGCCATCCCCTCTACGAGCCT c.600
E E R A T P H A K S E R P S H P L Y E P p.200
. . . . . . g.57177
GAGCCTGAGCCTAGGGACAGTCCCCAGCCTGGCCAAGGCCATAGTCCCGGAGCCACGGCT c.660
E P E P R D S P Q P G Q G H S P G A T A p.220
. . . . . . g.57237
GCGGCCACGGGTCTGCCCCCAGAGCCTGAGCCAGACAGCACTGATTACTCAGAACTTGCT c.720
A A T G L P P E P E P D S T D Y S E L A p.240
. . . . . . g.57297
GACGCCGACATCCTTAGTGAGCTGGCCTCCCTCACTTGCCCAGAGGCCCAGCTGCTAGAG c.780
D A D I L S E L A S L T C P E A Q L L E p.260
. . . . . . g.57357
GCCCAGGCCCTCGAGCCACCATCGCCCGAGCCGGAGCCTCAGCTCCTGGACCCCCAGCCC c.840
A Q A L E P P S P E P E P Q L L D P Q P p.280
. . . . . . g.57417
CGCTTCCTGGACCCGCAGGCACTAGAGCCGCTCGGGGAAGCTCTGGAGCTGCCACCCCTG c.900
R F L D P Q A L E P L G E A L E L P P L p.300
. . . . . . g.57477
CAACCTCTTGCTGATCCTCTGGGGCTGCCGGGCCTGGCTCTCCAGGCCCTGGACACCCTG c.960
Q P L A D P L G L P G L A L Q A L D T L p.320
. . . . . . g.57537
CCTGACTCCTTGGAGTCGCAGCTGCTTGACCCCCAGGCACTCGACCCCCTGCCCAAGCTG c.1020
P D S L E S Q L L D P Q A L D P L P K L p.340
. . . . . . g.57597
CTTGACGTCCCAGGTCGCCGTCTGGAGCCCCAGCAGCCCCTGGGGCACTGCCCACTGGCC c.1080
L D V P G R R L E P Q Q P L G H C P L A p.360
. . . . . . g.57657
GAGCCCTTGCGCCTGGACTTGTGCTCACCGCACGGCCCCCCCGGGCCTGAGGGTCACCCC c.1140
E P L R L D L C S P H G P P G P E G H P p.380
. . . . . . g.57717
AAGTACGCCTTGCGGCGCACTGATAGGCCAAAGATCCTGTGTCGCCGGCGGAAAGCCGGA c.1200
K Y A L R R T D R P K I L C R R R K A G p.400
. . . . . . g.57777
CGGGGACGCAAGGCAGACGCCGGACCCGAGGGCCGCCTACTGCCCCTGCCTATGCCCACG c.1260
R G R K A D A G P E G R L L P L P M P T p.420
. . . . . . g.57837
GGGCTGGTGGCTGCCCTGGCCGAACCCCCACCACCACCGCCTCCTCCACCCCCTGCCCTG c.1320
G L V A A L A E P P P P P P P P P P A L p.440
. . . . . . g.57897
CCAGGCCCAGGCCCGGTCTCAGTCCCAGAGTTGAAGCCGGAATCTTCCCAGACCCCAGTG c.1380
P G P G P V S V P E L K P E S S Q T P V p.460
. . . . . . g.57957
GTCTCTACCCGCAAAGGCAAGTGCCGGGGCGTGCGGCGCATGGTGGTGAAGATGGCCAAG c.1440
V S T R K G K C R G V R R M V V K M A K p.480
. . . . . . g.58017
ATCCCCGTATCGCTGGGGCGGCGGAACAAGACCACATACAAAGTGTCTTCCTTGAGCAGC c.1500
I P V S L G R R N K T T Y K V S S L S S p.500
. . . . . . g.58077
AGCCTGAGCGTGGAGGGCAAGGAGCTGGGCCTGCGCGTGTCGGCTGAGCCCACCCCGCTG c.1560
S L S V E G K E L G L R V S A E P T P L p.520
. . . . . . g.58137
CTGAAGATGAAGAACAATGGGCGGAACGTGGTAGTGGTCTTCCCACCCGGTGAGATGCCC c.1620
L K M K N N G R N V V V V F P P G E M P p.540
. . . . . . g.58197
ATTATTCTCAAACGTAAGCGCGGCCGCCCTCCTAAGAACCTGCTGCTGGGTCCCGGCAAG c.1680
I I L K R K R G R P P K N L L L G P G K p.560
. . . . . . g.58257
CCCAAGGAGCCAGCTGTGGTGGCGGCCGAGGCAGCCACTGTGGCAGCGGCCACCATGGCC c.1740
P K E P A V V A A E A A T V A A A T M A p.580
. . . . . . g.58317
ATGCCAGAGGTAAAAAAACGACGGCGGCGGAAGCAGAAGCTGGCATCTCCCCAGCCATCC c.1800
M P E V K K R R R R K Q K L A S P Q P S p.600
. . . . . . g.58377
TATGCAGCAGACGCCAACGACAGCAAGGCCGAGTACTCAGACGTCCTGGCCAAGCTGGCC c.1860
Y A A D A N D S K A E Y S D V L A K L A p.620
. . . . . . g.58437
TTCCTGAACCGCCAGAGCCAGTGCGCTGGACGGTGCTCACCGCCCCGCTGCTGGACACCC c.1920
F L N R Q S Q C A G R C S P P R C W T P p.640
. . . . . . g.58497
AGTGAGCCGGAGTCGGTGCACCAGGCCCCCGACACCCAGAGCATCTCCCACTTCCTGCAT c.1980
S E P E S V H Q A P D T Q S I S H F L H p.660
. . . . . . g.58557
CGTGTGCAGGGCTTCCGGCGGCGTGGGGGCAAAGCAGGCGGTTTTGGTGGCCGGGGTGGG c.2040
R V Q G F R R R G G K A G G F G G R G G p.680
. . . . . . g.58617
GGCCATGCGGCCAAGTCAGCCCGATGCTCCTTCAGTGACTTCTTTGAGGGCATCGGCAAG c.2100
G H A A K S A R C S F S D F F E G I G K p.700
. . . . . . g.58677
AAAAAGAAGGTGGTGGCCGTGGCAGCCGCTGGGGTCGGGGGCCCGGGCCTTACTGAGTTG c.2160
K K K V V A V A A A G V G G P G L T E L p.720
. . . . . . g.58737
GGGCACCCACGCAAACGGGGCCGGGGGGAGGTAGACGCTGTGACTGGGAAGCCAAAGCGC c.2220
G H P R K R G R G E V D A V T G K P K R p.740
. . . . . . g.58797
AAGAGACGGTCCCGGAAGAATGGGACTCTGTTCCCAGAGCAGGTGCCCAGTGGCCCAGGC c.2280
K R R S R K N G T L F P E Q V P S G P G p.760
. . . . . . g.58857
TTTGGGGAGGCAGGTGCTGAGTGGGCCGGGGATAAGGGTGGTGGCTGGGCCCCTCACCAT c.2340
F G E A G A E W A G D K G G G W A P H H p.780
. . . . . . g.58917
GGGCACCCAGGCGGACAAGCTGGCCGAAACTGTGGGTTTCAGGGGACCGAGGCCCGGGCC c.2400
G H P G G Q A G R N C G F Q G T E A R A p.800
. . . . . . g.58977
TTTGCCTCCACTGGGCTGGAGAGTGGAGCCTCAGGCCGTGGCAGCTACTACAGCACGGGT c.2460
F A S T G L E S G A S G R G S Y Y S T G p.820
. . . . . . g.59037
GCACCCTCAGGCCAGACCGAGCTCAGCCAGGAGCGCCAAAACCTCTTCACCGGCTACTTT c.2520
A P S G Q T E L S Q E R Q N L F T G Y F p.840
. . . . . . g.59097
CGCTCGCTGCTCGATTCGGATGACTCCTCCGATCTCTTGGACTTTGCCCTCTCAGCCTCT c.2580
R S L L D S D D S S D L L D F A L S A S p.860
. . . . . . g.59157
CGCCCAGAGTCCCGGAAGGCATCGGGCACCTATGCAGGGCCACCCACCAGTGCCCTGCCT c.2640
R P E S R K A S G T Y A G P P T S A L P p.880
. . . . . . g.59217
GCCCAGCGGGGCCTGGCCACCTTCCCTAGCCGGGGAGCCAAGGCCAGCCCAGTGGCAGTG c.2700
A Q R G L A T F P S R G A K A S P V A V p.900
. . . . . . g.59277
GGTAGCAGCGGGGCTGGGGCGGACCCCTCCTTTCAGCCTGTCCTGTCCGCGCGCCAGACC c.2760
G S S G A G A D P S F Q P V L S A R Q T p.920
. . . . . . g.59337
TTCCCACCAGGACGAGCAGCAAGCTATGGGCTAACTCCAGCCGCTTCAGACTGCCGGGCA c.2820
F P P G R A A S Y G L T P A A S D C R A p.940
. . . . . . g.59397
GCCGAGACCTTCCCCAAGCTGGTGCCCCCGCCCTCAGCCATGGCCCGCTCACCTACCACC c.2880
A E T F P K L V P P P S A M A R S P T T p.960
. . . . . . g.59457
CACCCGCCTGCCAACACCTACCTGCCCCAGTACGGCGGCTATGGGGCCGGACAAAGCGTA c.2940
H P P A N T Y L P Q Y G G Y G A G Q S V p.980
. . . . . . g.59517
TTCGCCCCAACTAAGCCCTTTACAGGCCAGGACTGCGCTAACAGCAAGGACTGCAGCTTC c.3000
F A P T K P F T G Q D C A N S K D C S F p.1000
. . . . . . g.59577
GCCTATGGCAGTGGCAACAGCCTCCCTGCCTCACCCAGCAGCGCCCACAGCGCCGGCTAT c.3060
A Y G S G N S L P A S P S S A H S A G Y p.1020
. . . . . . g.59637
GCCCCACCGCCTACCGGGGGCCCCTGCCTGCCACCAAGCAAGGCCTCCTTCTTCAGCAGC c.3120
A P P P T G G P C L P P S K A S F F S S p.1040
. . . . . . g.59697
TCTGAGGGGGCCCCCTTCTCTGGTTCAGCCCCCACGCCCCTGCGCTGTGACAGCCGGGCC c.3180
S E G A P F S G S A P T P L R C D S R A p.1060
. . . . . . g.59757
AGCACAGTCTCGCCCGGTGGCTACATGGTACCCAAGGGCACCACAGCCTCTGCCACCTCT c.3240
S T V S P G G Y M V P K G T T A S A T S p.1080
. . . . . . g.59817
GCAGCCTCTGCCGCCTCCTCCTCCTCCTCCTCCTTCCAGCCCTCGCCCGAGAACTGTCGG c.3300
A A S A A S S S S S S F Q P S P E N C R p.1100
. . . . . . g.59877
CAGTTTGCGGGGGCTTCTCAGTGGCCTTTCCGGCAGGGCTATGGAGGCCTGGACTGGGCC c.3360
Q F A G A S Q W P F R Q G Y G G L D W A p.1120
. . . . . . g.59937
TCAGAGGCCTTTAGTCAGCTCTACAATCCCAGTTTTGACTGCCACGTCAGCGAGCCCAAC c.3420
S E A F S Q L Y N P S F D C H V S E P N p.1140
. . . . . . g.59997
GTGATCCTGGACATCTCCAACTACACACCGCAGAAGGTGAAGCAGCAGACGGCTGTGTCG c.3480
V I L D I S N Y T P Q K V K Q Q T A V S p.1160
. . . . . . g.60057
GAGACCTTCTCTGAGTCATCCTCCGACAGCACCCAGTTCAATCAGCCGGTTGGTGGCGGG c.3540
E T F S E S S S D S T Q F N Q P V G G G p.1180
. . . . . . g.60117
GGGTTTCGGCGTGCCAACAGCGAGGCCTCAAGTAGTGAGGGCCAGTCGAGCCTGTCCAGC c.3600
G F R R A N S E A S S S E G Q S S L S S p.1200
. . . . . . g.60177
CTGGAGAAACTGATGATGGACTGGAACGAGGCATCATCTGCCCCCGGCTACAACTGGAAC c.3660
L E K L M M D W N E A S S A P G Y N W N p.1220
. . . . . . g.60237
CAGAGTGTCCTCTTTCAGAGTAGCTCCAAGCCGGGCCGTGGACGGCGGAAGAAGGTGGAC c.3720
Q S V L F Q S S S K P G R G R R K K V D p.1240
. . . . . . g.60297
CTGTTCGAGGCCTCACATCTGGGCTTCCCGACATCCGCCTCTGCCGCTGCCTCAGGCTAC c.3780
L F E A S H L G F P T S A S A A A S G Y p.1260
. . . . . . g.60357
CCATCCAAACGGAGCACTGGGCCCCGGCAGCCGCGAGGTGGACGGGGCGGTGGGGCCTGC c.3840
P S K R S T G P R Q P R G G R G G G A C p.1280
. . . . . . g.60417
TCAGCCAAGAAGGAGCGGGGTGGCGCAGCGGCCAAAGCCAAGTTCATCCCCAAGCCACAG c.3900
S A K K E R G G A A A K A K F I P K P Q p.1300
. . . . . . g.60477
CCAGTCAACCCACTGTTCCAGGACAGTCCTGACCTCGGCCTGGACTACTATAGCGGGGAC c.3960
P V N P L F Q D S P D L G L D Y Y S G D p.1320
. . . . . . g.60537
AGCAGCATGTCACCACTGCCCTCACAGTCGAGGGCCTTCGGCGTGGGAGAGCGAGACCCC c.4020
S S M S P L P S Q S R A F G V G E R D P p.1340
. . . . . . g.60597
TGTGACTTCATAGGACCCTACTCCATGAACCCGTCCACGCCTTCCGATGGCACCTTTGGC c.4080
C D F I G P Y S M N P S T P S D G T F G p.1360
. . . . . . g.60657
CAAGGCTTCCACTGCGACTCGCCCAGCCTGGGTGCTCCCGAGCTTGATGGCAAGCATTTC c.4140
Q G F H C D S P S L G A P E L D G K H F p.1380
. . . . . . g.60717
CCACCGCTGGCCCACCCACCCACGGTGTTTGACGCCGGCCTGCAGAAGGCATACTCGCCC c.4200
P P L A H P P T V F D A G L Q K A Y S P p.1400
. . . . . . g.60777
ACCTGCTCGCCTACACTGGGCTTCAAGGAAGAGCTGCGGCCACCGCCCACAAAGCTGGCT c.4260
T C S P T L G F K E E L R P P P T K L A p.1420
. . . . . . g.60837
GCCTGCGAGCCCCTCAAGCATGGACTCCAGGGGGCCAGCCTGGGCCACGCAGCTGCAGCC c.4320
A C E P L K H G L Q G A S L G H A A A A p.1440
. . . . . . g.60897
CAGGCCCACCTGAGCTGCCGGGACCTGCCGCTGGGCCAGCCCCACTACGATTCCCCCAGC c.4380
Q A H L S C R D L P L G Q P H Y D S P S p.1460
. . . . . . g.60957
TGCAAGGGCACAGCCTATTGGTACCCTCCAGGCTCAGCTGCCCGCAGCCCGCCCTATGAA c.4440
C K G T A Y W Y P P G S A A R S P P Y E p.1480
. . . . . . g.61017
GGCAAGGTGGGTACAGGGCTGCTGGCTGACTTCCTGGGCAGGACGGAGGCCGCGTGCCTC c.4500
G K V G T G L L A D F L G R T E A A C L p.1500
. . . . . . g.61077
AGTGCCCCTCACCTGGCTAGCCCACCAGCCACGCCCAAGGCCGACAAGGAGCCACTGGAA c.4560
S A P H L A S P P A T P K A D K E P L E p.1520
. . . . . . g.61137
ATGGCCCGGCCCCCTGGCCCACCCCGTGGCCCTGCTGCAGCCGCTGCTGGCTATGGCTGC c.4620
M A R P P G P P R G P A A A A A G Y G C p.1540
. . . . . . g.61197
CCACTCCTTAGTGACTTGACCCTGTCCCCCGTGCCGAGGGACTCGCTGCTGCCCCTGCAG c.4680
P L L S D L T L S P V P R D S L L P L Q p.1560
. . . . . . g.61257
GACACCGCCTACAGGTACCCAGGCTTTATGCCCCAGGCGCATCCTGGCCTGGGTGGGGGC c.4740
D T A Y R Y P G F M P Q A H P G L G G G p.1580
. . . . . . g.61317
CCCAAGAGCGGCTTCCTGGGGCCCATGGCGGAACCTCACCCCGAGGACACATTCACCGTC c.4800
P K S G F L G P M A E P H P E D T F T V p.1600
. g.61329
ACATCCCTGTAG | c.4813
T S L X p.1603
. . . . | 07 . . g.73733
tgccaactgaagtgccgactggaccgcgaggttttgttcctgg | ctttcagaaaaccaacg c.*60
. . . . . . g.73793
ccaagatccctcccagcgtccacatcgtcctctggcaggagctcctgcccctctgcctcc c.*120
. . . . . . g.73853
caccctgccccctacaccccctgcagacccatctccctccaccccctcccacccatctcc c.*180
. . . . . . g.73913
tccacgcagaagccgaaggtgagccctttctgcacaaaaccagcaattgtaaatactttt c.*240
. . . . . . g.73973
taaaaatgtacaaaacttaaaaacaaaacacagttttagaaaaagacaaaaaaaaaaaag c.*300
. . . . . . g.74033
agagagagagagcgagagagcgagcgtgtgcaagaggttgcgagcggggccccgaggtgt c.*360
. . . . . . g.74093
ccagagcccctgcaagtatgcactgagaaatttatctacaggtcgtttgacaaaaatgaa c.*420
. . . . . . g.74153
caatatcctatttattgtatatactgttttattataaatcgtggattgtatattgcattc c.*480
. . . . . . g.74213
tgtaaacctgctgtggtcccgtggtgtgcaaattcgcatggtgggggggagggagaagaa c.*540
. . . . . . g.74273
cctcttgcgggagctttttttttctttcttatttttcactcttttgggttttctcttctg c.*600
. . . . . . g.74333
ttgttgttgttgttgttttctgttggcaggacacacccaaagatccaagtttgtattaaa c.*660
. . . . . g.74388
aagaaatgaaaaaaagcaaaaaaaaaacaaaaaaaaaacaaaaaaaaaaaaccaa c.*715
(downstream sequence)
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