(used for variant description)
(last modified October 23, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_001099922.2 in the ALG13 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016238.1, covering ALG13 transcript NM_001099922.2.
(upstream sequence)
. . . . g.5041
acggatttccgcctccctcacagaaggcagtcactgcaacg c.-61
. . . . . . g.5101
tgcgtggcctcagttgcgtcatatccggcccttgcgatcagggcttgaggaacccgcgcc c.-1
. . . . . . g.5161
ATGAAGTGCGTGTTTGTTACCGTAGGGACCACCAGCTTTGACGACCTCATTGCGTGTGTG c.60
M K C V F V T V G T T S F D D L I A C V p.20
. . | 02 . . . . g.6053
TCGGCGCCCGACAGTCTGCAA | AAAATCGAGAGCCTTGGTTACAACCGACTTATCCTGCAA c.120
S A P D S L Q | K I E S L G Y N R L I L Q p.40
. . . . . . g.6113
ATTGGTAGAGGAACGGTGGTACCTGAACCCTTCAGTACTGAGTCGTTTACTCTGGATGTT c.180
I G R G T V V P E P F S T E S F T L D V p.60
. . . . . . g.6173
TACAGGTACAAGGATTCCTTGAAAGAAGACATTCAGAAAGCAGATCTTGTTATTAGTCAC c.240
Y R Y K D S L K E D I Q K A D L V I S H p.80
| 03 . . . . . . g.8903
GCAG | GTGCAGGAAGCTGTTTGGAGACTCTGGAAAAAGGAAAGCCACTCGTAGTGGTTATA c.300
A G | A G S C L E T L E K G K P L V V V I p.100
. . . . . . g.8963
AACGAAAAGTTGATGAACAATCATCAGCTGGAACTGGCAAAGCAGCTACACAAAGAGGGT c.360
N E K L M N N H Q L E L A K Q L H K E G p.120
. . | 04 . . . . g.31946
CATCTCTTCTATTGTACCTGCAG | GGTCCTGACTTGTCCTGGGCAAGCCAAGTCCATTGCT c.420
H L F Y C T C R | V L T C P G Q A K S I A p.140
. . . . . . g.32006
TCTGCTCCTGGGAAGTGCCAAGATTCTGCAGCGCTGACTTCAACTGCCTTTTCAGGCCTA c.480
S A P G K C Q D S A A L T S T A F S G L p.160
. . . . . . g.32066
GACTTTGGGCTGCTTTCCGGATACCTGCATAAGCAAGCCCTTGTTACTGCTACCCATCCT c.540
D F G L L S G Y L H K Q A L V T A T H P p.180
. . . . . . g.32126
ACCTGCACCCTGCTTTTTCCCTCTTGCCACGCTTTTTTTCCTCTCCCTCTTACCCCCACC c.600
T C T L L F P S C H A F F P L P L T P T p.200
. . . . . . g.32186
CTGTACAAAATGCATAAAGGATGGAAAAACTACTGCAGCCAGAAGTCTTTGAATGAGGCA c.660
L Y K M H K G W K N Y C S Q K S L N E A p.220
. . . . . . g.32246
TCAATGGATGAATATTTAGGCAGCTTAGGGCTGTTTCGAAAGCTGACTGCCAAGGATGCC c.720
S M D E Y L G S L G L F R K L T A K D A p.240
. . . | 05 . . . g.32877
TCTTGCCTCTTTCGGGCCATTTCGGAGCAG | TTGTTTTGCAGCCAGGTCCATCATTTGGAA c.780
S C L F R A I S E Q | L F C S Q V H H L E p.260
. . . . . | 06 . g.35563
ATCAGGAAGGCTTGTGTCTCATATATGAGGGAAAATCAACAAACTTTTGAGTCT | TATGTG c.840
I R K A C V S Y M R E N Q Q T F E S | Y V p.280
. . . . | 07 . . g.36381
GAGGGATCTTTTGAGAAATACCTGGAACGGTTGGGAGATCCCAAG | GAAAGTGCTGGCCAG c.900
E G S F E K Y L E R L G D P K | E S A G Q p.300
. . . | 08 . . . g.37135
CTGGAAATAAGAGCTCTTTCTCTAATTTATAA | TCGGGATTTCATTCTTTATCGCTTTCCT c.960
L E I R A L S L I Y N | R D F I L Y R F P p.320
. . . . | 09 . . g.41743
GGAAAACCTCCAACTTATGTCACAGATAATGGCTATGAAGACAAG | ATTCTACTCTGCTAC c.1020
G K P P T Y V T D N G Y E D K | I L L C Y p.340
. . . . . . g.41803
TCAAGTAGTGGTCACTATGATTCTGTGTACTCAAAACAATTTCAGTCAAGTGCAGCTGTT c.1080
S S S G H Y D S V Y S K Q F Q S S A A V p.360
| 10. . . . . . g.42047
TGTCAGG | CTGTATTGTACGAAATTCTCTATAAAGATGTGTTTGTTGTGGATGAAGAAGAG c.1140
C Q A | V L Y E I L Y K D V F V V D E E E p.380
. . . . . . g.42107
TTGAAGACTGCGATTAAATTGTTTCGAAGTGGTTCTAAGAAGAACAGAAATAATGCTGTA c.1200
L K T A I K L F R S G S K K N R N N A V p.400
. . . . . | 11 . g.43987
ACTGGAAGCGAGGATGCCCATACTGATTACAAGAGTTCAAATCAGAATAG | GATGGAAGAG c.1260
T G S E D A H T D Y K S S N Q N R | M E E p.420
. . . . . . g.44047
TGGGGTGCCTGCTACAATGCTGAAAATATACCAGAGGGCTACAATAAAGGAACAGAAGAA c.1320
W G A C Y N A E N I P E G Y N K G T E E p.440
| 12 . . . . . . g.45539
ACAAAG | TCTCCAGAAAATCCATCAAAGATGCCCTTCCCCTATAAGGTGCTCAAAGCCCTG c.1380
T K | S P E N P S K M P F P Y K V L K A L p.460
. . . . . | 13 . g.46680
GATCCAGAAATCTATCGTAATGTAGAATTTGATGTTTGGTTGGACAGCAGAAAAG | AACTT c.1440
D P E I Y R N V E F D V W L D S R K E | L p.480
. . . . . . g.46740
CAAAAATCTGATTACATGGAGTATGCTGGGAGACAGTACTATTTGGGAGACAAGTGTCAG c.1500
Q K S D Y M E Y A G R Q Y Y L G D K C Q p.500
| 14 . . . . . . g.47740
| GTTTGCTTGGAATCAGAAGGAAGATATTATAATGCTCATATCCAGGAAGTTGGAAATGAG c.1560
| V C L E S E G R Y Y N A H I Q E V G N E p.520
. . . . | 15 . . g.48835
AACAATTCAGTAACAGTCTTCATTGAAGAATTGGCGGAAAA | GCATGTTGTTCCACTGGCT c.1620
N N S V T V F I E E L A E K | H V V P L A p.540
. . . . . . g.48895
AACTTAAAACCAGTTACCCAAGTGATGTCTGTTCCTGCCTGGAATGCTATGCCCAGTCGG c.1680
N L K P V T Q V M S V P A W N A M P S R p.560
. . . . | 16 . g.50702
AAAGGAAGAGGTTACCAGAAAATGCCTGGGGGTTATGTCCCGGAAATAG | TTATATCAGAG c.1740
K G R G Y Q K M P G G Y V P E I V | I S E p.580
. . . . . . g.50762
ATGGACATAAAGCAACAGAAGAAGATGTTCAAGAAAATTCGAGGGAAAGAAGTTTACATG c.1800
M D I K Q Q K K M F K K I R G K E V Y M p.600
. . . . . . g.50822
ACTATGGCTTACGGCAAGGGAGACCCCCTCCTCCCACCCAGGCTGCAGCACAGTATGCAT c.1860
T M A Y G K G D P L L P P R L Q H S M H p.620
. . . . . . g.50882
TATGGGCACGATCCTCCAATGCACTACTCACAGACAGCTGGCAATGTTATGTCTAATGAA c.1920
Y G H D P P M H Y S Q T A G N V M S N E p.640
. . . . . | 17 . g.51218
CATTTTCATCCTCAGCATCCATCTCCGAGACAAGGTCGGGGATATGGGATGCCCAG | GAAT c.1980
H F H P Q H P S P R Q G R G Y G M P R | N p.660
. . . . . . g.51278
TCATCTCGGTTTATAAACAGGCACAACATGCCGGGCCCTAAAGTTGATTTTTACCCAGGC c.2040
S S R F I N R H N M P G P K V D F Y P G p.680
. . . . . | 18 . g.51506
CCAGGTAAAAGGTGCTGCCAGAGCTATGATAACTTCTCTTATAGATCTCG | TTCATTTAGA c.2100
P G K R C C Q S Y D N F S Y R S R | S F R p.700
. . . . . . g.51566
CGTAGTCACCGCCAGATGAGTTGTGTGAATAAGGAGTCCCAGTATGGATTTACCCCAGGG c.2160
R S H R Q M S C V N K E S Q Y G F T P G p.720
. . . . . . g.51626
AATGGACAGATGCCCAGGGGCTTGGAAGAAACTATTACTTTTTATGAAGTTGAAGAAGGG c.2220
N G Q M P R G L E E T I T F Y E V E E G p.740
. . | 19. . . . g.52100
GATGAGACTGCTTATCCAACTTTACCT | AATCATGGAGGTCCCTCTACAATGGTTCCTGCT c.2280
D E T A Y P T L P | N H G G P S T M V P A p.760
. . . . . . g.52160
ACTTCAGGATACTGTGTTGGAAGGCGGGGACATAGCTCAGGCAAACAGACTTTGAATTTA c.2340
T S G Y C V G R R G H S S G K Q T L N L p.780
. . | 20 . . . g.54309
GAGGAGGGCAATGGCCAGAGTGAAAATG | GGCGATATCATGAAGAATATCTTTATCGTGCA c.2400
E E G N G Q S E N G | R Y H E E Y L Y R A p.800
| 21 . . . . . | 22. g.58936
G | AGCCAGACTATGAAACTTCAGGTGTTTATAGCACAACTGCATCTACAGCAAACTTG | TCT c.2460
E | P D Y E T S G V Y S T T A S T A N L | S p.820
. . . . . . g.58996
CTTCAGGACAGAAAGTCATGTTCTATGTCTCCTCAGGACACAGTTACCTCATACAACTAC c.2520
L Q D R K S C S M S P Q D T V T S Y N Y p.840
| 23 . . . . . g.60647
CCCCAGAAG | ATGATGGGAAATATTGCAGCAGTTGCAGCTTCCTGTGCCAATAATGTTCCA c.2580
P Q K | M M G N I A A V A A S C A N N V P p.860
. . . . . . g.60707
GCTCCAGTCTTATCTAACGGTGCAGCGGCTAATCAAGCTATTAGTACCACTTCAGTTTCC c.2640
A P V L S N G A A A N Q A I S T T S V S p.880
. . . . . | 24 . g.68555
TCACAGAATGCTATACAGCCTCTCTTTGTATCTCCACCTACACACGGCAGGCCAG | TGATT c.2700
S Q N A I Q P L F V S P P T H G R P V | I p.900
. . . . . . g.68615
GCCTCACCATCCTATCCATGCCATTCTGCTATTCCTCATGCTGGTGCCTCTCTACCACCA c.2760
A S P S Y P C H S A I P H A G A S L P P p.920
. . . . . . g.68675
CCACCACCACCACCACCACCACCACCACCACCACCACCTCCTCCTCCTCCTCCTCCTCCT c.2820
P P P P P P P P P P P P P P P P P P P P p.940
. . . . . . g.68735
CCTCCTCCTCCTCCTGCTCTTGATGTGGGAGAGACTTCAAACTTACAACCACCACCACCA c.2880
P P P P P A L D V G E T S N L Q P P P P p.960
. . . . . | 25 . g.76680
CTACCACCTCCACCTTATTCCTGTGATCCAAGCGGCAGTGATTTGCCTCAAG | ATACAAAA c.2940
L P P P P Y S C D P S G S D L P Q D | T K p.980
. . . | 26 . . . g.81497
GTTTTGCAGTACTATTTCAATCTAGGATTGCAG | TGCTATTACCACAGCTACTGGCACTCC c.3000
V L Q Y Y F N L G L Q | C Y Y H S Y W H S p.1000
. . . . . . g.81557
ATGGTCTATGTGCCACAGATGCAGCAGCAGCTTCATGTAGAGAATTATCCAGTCTATACT c.3060
M V Y V P Q M Q Q Q L H V E N Y P V Y T p.1020
. . . . . . g.81617
GAGCCACCTCTGGTAGATCAAACCGTTCCTCAATGCTACAGTGAGGTGAGGAGAGAAGAT c.3120
E P P L V D Q T V P Q C Y S E V R R E D p.1040
. . | 27 . . . g.83648
GGCATACAGGCGGAAGCATCAGCAAATG | ATACTTTTCCGAATGCTGATTCTTCATCTGTC c.3180
G I Q A E A S A N D | T F P N A D S S S V p.1060
. . . . . . g.83708
CCTCATGGAGCAGTCTATTATCCAGTAATGTCAGATCCCTATGGGCAGCCACCTTTGCCA c.3240
P H G A V Y Y P V M S D P Y G Q P P L P p.1080
. . . . . . g.83768
GGTTTTGACTCCTGCCTTCCGGTTGTGCCAGATTATTCCTGTGTTCCCCCCTGGCATCCA c.3300
G F D S C L P V V P D Y S C V P P W H P p.1100
. . . . . . g.83828
GTTGGTACAGCATATGGTGGTTCTTCTCAAATTCATGGTGCTATAAATCCTGGGCCAATT c.3360
V G T A Y G G S S Q I H G A I N P G P I p.1120
. . . . . g.83882
GGCTGTATTGCTCCATCTCCCCCAGCTTCTCATTATGTACCTCAGGGTATGTAA c.3414
G C I A P S P P A S H Y V P Q G M X p.1137
. . . . . . g.83942
gatccagcagtatgaagtattcttgcactgccattttcttgctgtttttgtttttaaaaa c.*60
. . . . . . g.84002
gtattttatgttagtggttaaatgatttaggtgattagtgtttactattgtatttgtctt c.*120
. . . . . . g.84062
taaaattattttatcttttgatttaaaatagtactttaaaattaaggggtattattttgg c.*180
. . . . . . g.84122
gctgtgactaaggaaattgagatggatgtacaactagccccatattgagcatacttcatt c.*240
. . . . . . g.84182
gtattcagctgttttcctgtcagccatttgtcagctttatattagctgatggtaccaatt c.*300
. . . . . . g.84242
gataaaatgaatataaagtatttcattggttcaaaaatcacacatcatattaaaccatgc c.*360
. . . . . . g.84302
agaattggagtaacttccacttttttctagaaagtaaaaccaagagcctttgcttctgga c.*420
. . . . . . g.84362
taactcacttaatattaaattaaagagctcttcacgtttcttgagaattatctgaagcca c.*480
. . . . . . g.84422
gttgcattctgtgatatcagttttgaaggcacatggttctctgctttagatttatcccat c.*540
. . . . . . g.84482
atgctattgtttaatactggatgtatgtaagtgttttactgcactgtattgaattggtgt c.*600
. . . . . g.84532
cttttgcacagttagcagtaaataaaaattagcatttaaaattgccaaaa c.*650
(downstream sequence)
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