(used for variant description)
(last modified April 18, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_001171.5 in the ABCC6 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007558.2, covering ABCC6 transcript NM_001171.5.
(upstream sequence)
. . . g.5037
agacagacgctgggacccacgacgacagaaggcgccg c.-1
. . . | 02 . . . g.6664
ATGGCCGCGCCTGCTGAGCCCTGCGCGGGGCAGGGG | GTCTGGAACCAGACAGAGCCTGAA c.60
M A A P A E P C A G Q G | V W N Q T E P E p.20
. . . . . . g.6724
CCTGCCGCCACCAGCCTGCTGAGCCTGTGCTTCCTGAGAACAGCAGGGGTCTGGGTACCC c.120
P A A T S L L S L C F L R T A G V W V P p.40
. . . . . . g.6784
CCCATGTACCTCTGGGTCCTTGGTCCCATCTACCTCCTCTTCATCCACCACCATGGCCGG c.180
P M Y L W V L G P I Y L L F I H H H G R p.60
. . . | 03 . . g.8545
GGCTACCTCCGGATGTCCCCACTCTTCAAAGCCAAGATG | GTGCTTGGATTCGCCCTCATA c.240
G Y L R M S P L F K A K M | V L G F A L I p.80
. . . . . . g.8605
GTCCTGTGTACCTCCAGCGTGGCTGTCGCTCTTTGGAAAATCCAACAGGGAACGCCTGAG c.300
V L C T S S V A V A L W K I Q Q G T P E p.100
. . . . | 04 . . g.8804
GCCCCAGAATTCCTCATTCATCCTACTGTGTGGCTCACCACGATG | AGCTTCGCAGTGTTC c.360
A P E F L I H P T V W L T T M | S F A V F p.120
. . . . . . g.8864
CTGATTCACACCGAGAGGAAAAAGGGAGTCCAGTCATCTGGAGTGCTGTTTGGTTACTGG c.420
L I H T E R K K G V Q S S G V L F G Y W p.140
. . . . . | 05 . g.14028
CTTCTCTGCTTTGTCTTGCCAGCTACCAACGCTGCCCAGCAGGCCTCCGGAGCG | GGCTTC c.480
L L C F V L P A T N A A Q Q A S G A | G F p.160
. . . . . . g.14088
CAGAGCGACCCTGTCCGCCACCTGTCCACCTACCTATGCCTGTCTCTGGTGGTGGCACAG c.540
Q S D P V R H L S T Y L C L S L V V A Q p.180
. . . . . . g.14148
TTTGTGCTGTCCTGCCTGGCGGATCAACCCCCCTTCTTCCCTGAAGACCCCCAGCAGTCT c.600
F V L S C L A D Q P P F F P E D P Q Q S p.200
| 06 . . . . . . g.16285
| AACCCCTGTCCAGAGACTGGGGCAGCCTTCCCCTCCAAAGCCACGTTCTGGTGGGTTTCT c.660
| N P C P E T G A A F P S K A T F W W V S p.220
| 07 . . . . . . g.19670
GG | CCTGGTCTGGAGGGGATACAGGAGGCCACTGAGACCAAAAGACCTCTGGTCGCTTGGG c.720
G | L V W R G Y R R P L R P K D L W S L G p.240
. . . . . . g.19730
AGAGAAAACTCCTCAGAAGAACTTGTTTCCCGGCTTGAAAAGGAGTGGATGAGGAACCGC c.780
R E N S S E E L V S R L E K E W M R N R p.260
. | 08 . . . . . g.24904
AGTGCAGCCCGGAG | GCACAACAAGGCAATAGCATTTAAAAGGAAAGGCGGCAGTGGCATG c.840
S A A R R | H N K A I A F K R K G G S G M p.280
. . . . . . g.24964
AAGGCTCCAGAGACCGAGCCCTTCCTACGGCAAGAAGGGAGCCAGTGGCGCCCACTGCTG c.900
K A P E T E P F L R Q E G S Q W R P L L p.300
. . . . . . g.25024
AAGGCCATCTGGCAGGTGTTCCATTCTACCTTCCTCCTGGGGACCCTCAGCCTCATCATC c.960
K A I W Q V F H S T F L L G T L S L I I p.320
. . . | 09 . . g.26315
AGTGATGTCTTCAGGTTCACTGTCCCCAAGCTGCTCAG | CCTTTTCCTGGAGTTTATTGGT c.1020
S D V F R F T V P K L L S | L F L E F I G p.340
. . . . . . g.26375
GATCCCAAGCCTCCAGCCTGGAAGGGCTACCTCCTCGCCGTGCTGATGTTCCTCTCAGCC c.1080
D P K P P A W K G Y L L A V L M F L S A p.360
. . . . . . g.26435
TGCCTGCAAACGCTGTTTGAGCAGCAGAACATGTACAGGCTCAAGGTGCTGCAGATGAGG c.1140
C L Q T L F E Q Q N M Y R L K V L Q M R p.380
. . . | 10 . . . g.30313
TTGCGGTCGGCCATCACTGGCCTGGTGTACAGAAAG | GTCCTGGCTCTGTCCAGCGGCTCC c.1200
L R S A I T G L V Y R K | V L A L S S G S p.400
. . . . . . g.30373
AGAAAGGCCAGTGCGGTGGGTGATGTGGTCAATCTGGTGTCCGTGGACGTGCAGCGGCTG c.1260
R K A S A V G D V V N L V S V D V Q R L p.420
. . . . . . g.30433
ACCGAGAGCGTCCTCTACCTCAACGGGCTGTGGCTGCCTCTCGTCTGGATCGTGGTCTGC c.1320
T E S V L Y L N G L W L P L V W I V V C p.440
. | 11 . . . . g.35591
TTCGTCTATCTCTGGCAG | CTCCTGGGGCCCTCCGCCCTCACTGCCATCGCTGTCTTCCTG c.1380
F V Y L W Q | L L G P S A L T A I A V F L p.460
. . . . . | 12 . g.38113
AGCCTCCTCCCTCTGAATTTCTTCATCTCCAAGAAAAGGAACCACCATCAG | GAGGAGCAA c.1440
S L L P L N F F I S K K R N H H Q | E E Q p.480
. . . . . . g.38173
ATGAGGCAGAAGGACTCACGGGCACGGCTCACCAGCTCTATCCTCAGGAACTCGAAGACC c.1500
M R Q K D S R A R L T S S I L R N S K T p.500
. . . . . . g.38233
ATCAAGTTCCATGGCTGGGAGGGAGCCTTTCTGGACAGAGTCCTGGGCATCCGAGGCCAG c.1560
I K F H G W E G A F L D R V L G I R G Q p.520
. . . . . . g.38293
GAGCTGGGCGCCTTGCGGACCTCCGGCCTCCTCTTCTCTGTGTCGCTGGTGTCCTTCCAA c.1620
E L G A L R T S G L L F S V S L V S F Q p.540
. | 13 . . . . . g.39542
GTGTCTACATTTCTG | GTCGCACTGGTGGTGTTTGCTGTCCACACTCTGGTGGCCGAGAAT c.1680
V S T F L | V A L V V F A V H T L V A E N p.560
. . . . . . g.39602
GCTATGAATGCAGAGAAAGCCTTTGTGACTCTCACAGTTCTCAACATCCTCAACAAGGCC c.1740
A M N A E K A F V T L T V L N I L N K A p.580
. . . | 14 . . g.41281
CAGGCTTTCCTGCCCTTCTCCATCCACTCCCTCGTCCAG | GCCCGGGTGTCCTTTGACCGT c.1800
Q A F L P F S I H S L V Q | A R V S F D R p.600
. . . . . . g.41341
CTGGTCACCTTCCTCTGCCTGGAAGAAGTTGACCCTGGTGTCGTAGACTCAAGTTCCTCT c.1860
L V T F L C L E E V D P G V V D S S S S p.620
| 15. . . . . . g.43490
GGAAGCG | CTGCCGGGAAGGATTGCATCACCATACACAGTGCCACCTTCGCCTGGTCCCAG c.1920
G S A | A G K D C I T I H S A T F A W S Q p.640
. . | 16 . . . . g.45578
GAAAGCCCTCCCTGCCTCCACAG | AATAAACCTCACGGTGCCCCAGGGCTGTCTGCTGGCT c.1980
E S P P C L H R | I N L T V P Q G C L L A p.660
. . . . . . g.45638
GTTGTCGGTCCAGTGGGGGCAGGGAAGTCCTCCCTGCTGTCCGCCCTCCTTGGGGAGCTG c.2040
V V G P V G A G K S S L L S A L L G E L p.680
. . . | 17 . . . g.45913
TCAAAGGTGGAGGGGTTCGTGAGCATCGAG | GGTGCTGTGGCCTACGTGCCCCAGGAGGCC c.2100
S K V E G F V S I E | G A V A Y V P Q E A p.700
. . . . . . g.45973
TGGGTGCAGAACACCTCTGTGGTAGAGAATGTGTGCTTCGGGCAGGAGCTGGACCCACCC c.2160
W V Q N T S V V E N V C F G Q E L D P P p.720
. . . . . . g.46033
TGGCTGGAGAGAGTACTAGAAGCCTGTGCCCTGCAGCCAGATGTGGACAGCTTCCCTGAG c.2220
W L E R V L E A C A L Q P D V D S F P E p.740
. . | 18. . . . g.49539
GGAATCCACACTTCAATTGGGGAGCAG | GGCATGAATCTCTCCGGAGGCCAGAAGCAGCGG c.2280
G I H T S I G E Q | G M N L S G G Q K Q R p.760
. . . . . . g.49599
CTGAGCCTGGCCCGGGCTGTATACAGAAAGGCAGCTGTGTACCTGCTGGATGACCCCCTG c.2340
L S L A R A V Y R K A A V Y L L D D P L p.780
. . . . . . g.49659
GCGGCCCTGGATGCCCACGTTGGCCAGCATGTCTTCAACCAGGTCATTGGGCCTGGTGGG c.2400
A A L D A H V G Q H V F N Q V I G P G G p.800
. | 19 . . . . . g.50890
CTACTCCAGGGAACA | ACACGGATTCTCGTGACGCACGCACTCCACATCCTGCCCCAGGCT c.2460
L L Q G T | T R I L V T H A L H I L P Q A p.820
. . . . . . g.50950
GATTGGATCATAGTGCTGGCAAATGGGGCCATCGCAGAGATGGGTTCCTACCAGGAGCTT c.2520
D W I I V L A N G A I A E M G S Y Q E L p.840
. . . . . . g.51010
CTGCAGAGGAAGGGGGCCCTCGTGTGTCTTCTGGATCAAGCCAGACAGCCAGGAGATAGA c.2580
L Q R K G A L V C L L D Q A R Q P G D R p.860
. | 20 . . . . . g.52535
GGAGAAGGAG | AAACAGAACCTGGGACCAGCACCAAGGACCCCAGAGGCACCTCTGCAGGC c.2640
G E G E | T E P G T S T K D P R G T S A G p.880
. . | 21 . . . . g.55101
AGGAGGCCCGAGCTTAGACGCGAGAG | GTCCATCAAGTCAGTCCCTGAGAAGGACCGTACC c.2700
R R P E L R R E R | S I K S V P E K D R T p.900
. . . . . . g.55161
ACTTCAGAAGCCCAGACAGAGGTTCCTCTGGATGACCCTGACAGGGCAGGATGGCCAGCA c.2760
T S E A Q T E V P L D D P D R A G W P A p.920
. . | 22. . . . g.58651
GGAAAGGACAGCATCCAATACGGCAGG | GTGAAGGCCACAGTGCACCTGGCCTACCTGCGT c.2820
G K D S I Q Y G R | V K A T V H L A Y L R p.940
. . . . . . g.58711
GCCGTGGGCACCCCCCTCTGCCTCTACGCACTCTTCCTCTTCCTCTGCCAGCAAGTGGCC c.2880
A V G T P L C L Y A L F L F L C Q Q V A p.960
. . . . . . g.58771
TCCTTCTGCCGGGGCTACTGGCTGAGCCTGTGGGCGGACGACCCTGCAGTAGGTGGGCAG c.2940
S F C R G Y W L S L W A D D P A V G G Q p.980
. . . . . | 23 . g.62543
CAGACGCAGGCAGCCCTGCGTGGCGGGATCTTCGGGCTCCTCGGCTGTCTCCAAG | CCATT c.3000
Q T Q A A L R G G I F G L L G C L Q A | I p.1000
. . . . . . g.62603
GGGCTGTTTGCCTCCATGGCTGCGGTGCTCCTAGGTGGGGCCCGGGCATCCAGGTTGCTC c.3060
G L F A S M A A V L L G G A R A S R L L p.1020
. . . . . . g.62663
TTCCAGAGGCTCCTGTGGGATGTGGTGCGATCTCCCATCAGCTTCTTTGAGCGGACACCC c.3120
F Q R L L W D V V R S P I S F F E R T P p.1040
. . . . . . g.62723
ATTGGTCACCTGCTAAACCGCTTCTCCAAGGAGACAGACACGGTTGACGTGGACATTCCA c.3180
I G H L L N R F S K E T D T V D V D I P p.1060
. . . . . . g.62783
GACAAACTCCGGTCCCTGCTGATGTACGCCTTTGGACTCCTGGAGGTCAGCCTGGTGGTG c.3240
D K L R S L L M Y A F G L L E V S L V V p.1080
. . . . . . g.62843
GCAGTGGCTACCCCACTGGCCACTGTGGCCATCCTGCCACTGTTTCTCCTCTACGCTGGG c.3300
A V A T P L A T V A I L P L F L L Y A G p.1100
| 24 . . . . . . g.65333
TTTCAG | AGCCTGTATGTGGTTAGCTCATGCCAGCTGAGACGCTTGGAGTCAGCCAGCTAC c.3360
F Q | S L Y V V S S C Q L R R L E S A S Y p.1120
. . . . . . g.65393
TCGTCTGTCTGCTCCCACATGGCTGAGACGTTCCAGGGCAGCACAGTGGTCCGGGCATTC c.3420
S S V C S H M A E T F Q G S T V V R A F p.1140
. . . . . . g.65453
CGAACCCAGGCCCCCTTTGTGGCTCAGAACAATGCTCGCGTAGATGAAAGCCAGAGGATC c.3480
R T Q A P F V A Q N N A R V D E S Q R I p.1160
. . | 25 . . . . g.66941
AGTTTCCCGCGACTGGTGGCTGACAG | GTGGCTTGCGGCCAATGTGGAGCTCCTGGGGAAT c.3540
S F P R L V A D R | W L A A N V E L L G N p.1180
. . . . . . g.67001
GGCCTGGTGTTTGCAGCTGCCACGTGTGCTGTGCTGAGCAAAGCCCACCTCAGTGCTGGC c.3600
G L V F A A A T C A V L S K A H L S A G p.1200
. . . | 26 . . . g.68915
CTCGTGGGCTTCTCTGTCTCTGCTGCCCTCCAG | GTGACCCAGACACTGCAGTGGGTTGTT c.3660
L V G F S V S A A L Q | V T Q T L Q W V V p.1220
. . . . . . g.68975
CGCAACTGGACAGACCTAGAGAACAGCATCGTGTCAGTGGAGCGGATGCAGGACTATGCC c.3720
R N W T D L E N S I V S V E R M Q D Y A p.1240
. | 27 . . . . . g.70707
TGGACGCCCAAGGAG | GCTCCCTGGAGGCTGCCCACATGTGCAGCTCAGCCCCCCTGGCCT c.3780
W T P K E | A P W R L P T C A A Q P P W P p.1260
. . . . . . g.70767
CAGGGCGGGCAGATCGAGTTCCGGGACTTTGGGCTAAGATACCGACCTGAGCTCCCGCTG c.3840
Q G G Q I E F R D F G L R Y R P E L P L p.1280
. . . . | 28 . . g.73458
GCTGTGCAGGGCGTGTCCTTCAAGATCCACGCAGGAGAGAAG | GTGGGCATCGTTGGCAGG c.3900
A V Q G V S F K I H A G E K | V G I V G R p.1300
. . . . . . g.73518
ACCGGGGCAGGGAAGTCCTCCCTGGCCAGTGGGCTGCTGCGGCTCCAGGAGGCAGCTGAG c.3960
T G A G K S S L A S G L L R L Q E A A E p.1320
. . . . . . g.73578
GGTGGGATCTGGATCGACGGGGTCCCCATTGCCCACGTGGGGCTGCACACACTGCGCTCC c.4020
G G I W I D G V P I A H V G L H T L R S p.1340
. . | 29 . . . . g.73716
AGGATCAGCATCATCCCCCAG | GACCCCATCCTGTTCCCTGGCTCTCTGCGGATGAACCTC c.4080
R I S I I P Q | D P I L F P G S L R M N L p.1360
. . . . . . g.73776
GACCTGCTGCAGGAGCACTCGGACGAGGCTATCTGGGCAGCCCTGGAGACGGTGCAGCTC c.4140
D L L Q E H S D E A I W A A L E T V Q L p.1380
. . . . . . g.73836
AAAGCCTTGGTGGCCAGCCTGCCCGGCCAGCTGCAGTACAAGTGTGCTGACCGAGGCGAG c.4200
K A L V A S L P G Q L Q Y K C A D R G E p.1400
| 30 . . . . . g.77751
GACCTGAG | CGTGGGCCAGAAACAGCTCCTGTGTCTGGCACGTGCCCTTCTCCGGAAGACC c.4260
D L S | V G Q K Q L L C L A R A L L R K T p.1420
. . . . . . g.77811
CAGATCCTCATCCTGGACGAGGCTACTGCTGCCGTGGACCCTGGCACGGAGCTGCAGATG c.4320
Q I L I L D E A T A A V D P G T E L Q M p.1440
. . . . . . g.77871
CAGGCCATGCTCGGGAGCTGGTTTGCACAGTGCACTGTGCTGCTCATTGCCCACCGCCTG c.4380
Q A M L G S W F A Q C T V L L I A H R L p.1460
. . | 31 . . . . g.78267
CGCTCCGTGATGGACTGTGCCCG | GGTTCTGGTCATGGACAAGGGGCAGGTGGCAGAGAGC c.4440
R S V M D C A R | V L V M D K G Q V A E S p.1480
. . . . . . g.78327
GGCAGCCCGGCCCAGCTGCTGGCCCAGAAGGGCCTGTTTTACAGACTGGCCCAGGAGTCA c.4500
G S P A Q L L A Q K G L F Y R L A Q E S p.1500
. g.78339
GGCCTGGTCTGA c.4512
G L V X p.1503
. . . . . . g.78399
gccaggaccctcaaccgtaccccagttggaccagcccgcacagcctgcagtgctggagat c.*60
. . . . . . g.78459
ggaagtgacccgtggtcatcgatagctccacacgatattgagtctagacctgtgtttgct c.*120
. . . . . . g.78519
ctctgggaggaaaatggcagagaaagtggccaattatcacagagcatcagagccggaagg c.*180
. . . . . . g.78579
acctagcaatacacaggtctgcccgggcagggcccatctcgccctgtccaccctgcagcc c.*240
. . . . . . g.78639
aatgtcaacagcgactctcagccccgctgtactctggactcacctgggggcctcaagcac c.*300
. . . . . . g.78699
atgcccaggctcccggctagacccttaaatcagaatctctgaggctgggaactgccatgc c.*360
. . . . . . g.78759
tgtgtgtactttttacaaattaacacttttattttgggataatcccagactcacatgcag c.*420
. . . . . . g.78819
ttaaagaaacaataatatagagagattcgtgtacttggtaccccatttcacccaatggta c.*480
. . . . . . g.78879
acatcttgcaaaactctaggataaagcatcacagccagggtgttgacattgacacaacaa c.*540
. . g.78907
tcttgctcgatttcccgttttacctgta c.*568
(downstream sequence)
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