(used for variant description)
(last modified June 21, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_032583.3 in the ABCC11 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011522.1, covering ABCC11 transcript NM_032583.3.
(upstream sequence)
g.5004
gtgt c.-61
. . . . . | 02 . g.8256
atttgaataaaccaggttggcaaatcatactatagctgaaag | aattggcaggaactgaaa c.-1
. . . . . . g.8316
ATGACTAGGAAGAGGACATACTGGGTGCCCAACTCTTCTGGTGGCCTCGTGAATCGTGGC c.60
M T R K R T Y W V P N S S G G L V N R G p.20
. . . | 03 . . g.9625
ATCGACATAGGCGATGACATGGTTTCAGGACTTATTTAT | AAAACCTATACTCTCCAAGAT c.120
I D I G D D M V S G L I Y | K T Y T L Q D p.40
. . . . . . g.9685
GGCCCCTGGAGTCAGCAAGAGAGAAATCCTGAGGCTCCAGGGAGGGCAGCTGTCCCACCG c.180
G P W S Q Q E R N P E A P G R A A V P P p.60
. . . . . | 04 . g.12217
TGGGGGAAGTATGATGCTGCCTTGAGAACCATGATTCCCTTCCGTCCCAAGCCGAG | GTTT c.240
W G K Y D A A L R T M I P F R P K P R | F p.80
. . . . . . g.12277
CCTGCCCCCCAGCCCCTGGACAATGCTGGCCTGTTCTCCTACCTCACCGTGTCATGGCTC c.300
P A P Q P L D N A G L F S Y L T V S W L p.100
. . . . . . g.12337
ACCCCGCTCATGATCCAAAGCTTACGGAGTCGCTTAGATGAGAACACCATCCCTCCACTG c.360
T P L M I Q S L R S R L D E N T I P P L p.120
. . . | 05 . . . g.15773
TCAGTCCATGATGCCTCAGACAAAAATGTCCAAAG | GCTTCACCGCCTTTGGGAAGAAGAA c.420
S V H D A S D K N V Q R | L H R L W E E E p.140
. . . . . . g.15833
GTCTCAAGGCGAGGGATTGAAAAAGCTTCAGTGCTTCTGGTGATGCTGAGGTTCCAGAGA c.480
V S R R G I E K A S V L L V M L R F Q R p.160
. . . . . . g.15893
ACAAGGTTGATTTTCGATGCACTTCTGGGCATCTGCTTCTGCATTGCCAGTGTACTCGGG c.540
T R L I F D A L L G I C F C I A S V L G p.180
| 06 . . . . . . g.17403
CCA | ATATTGATTATACCAAAGATCCTGGAATATTCAGAAGAGCAGTTGGGGAATGTTGTC c.600
P | I L I I P K I L E Y S E E Q L G N V V p.200
. . . . . . g.17463
CATGGAGTGGGACTCTGCTTTGCCCTTTTTCTCTCCGAATGTGTGAAGTCTCTGAGTTTC c.660
H G V G L C F A L F L S E C V K S L S F p.220
. . . . . . g.17523
TCCTCCAGTTGGATCATCAACCAACGCACAGCCATCAGGTTCCGAGCAGCTGTTTCCTCC c.720
S S S W I I N Q R T A I R F R A A V S S p.240
. . . . . | 07. g.23893
TTTGCCTTTGAGAAGCTCATCCAATTTAAGTCTGTAATACACATCACCTCAGGAGAG | GCC c.780
F A F E K L I Q F K S V I H I T S G E | A p.260
. . . . . . g.23953
ATCAGCTTCTTCACCGGTGATGTAAACTACCTGTTTGAAGGGGTGTGCTATGGACCCCTA c.840
I S F F T G D V N Y L F E G V C Y G P L p.280
. . . . . . g.24013
GTACTGATCACCTGCGCATCGCTGGTCATCTGCAGCATTTCTTCCTACTTCATTATTGGA c.900
V L I T C A S L V I C S I S S Y F I I G p.300
. . . . . | 08 . g.24842
TACACTGCATTTATTGCCATCTTATGCTATCTCCTGGTTTTCCCACTGGCG | GTATTCATG c.960
Y T A F I A I L C Y L L V F P L A | V F M p.320
. . . . . . g.24902
ACAAGAATGGCTGTGAAGGCTCAGCATCACACATCTGAGGTCAGCGACCAGCGCATCCGT c.1020
T R M A V K A Q H H T S E V S D Q R I R p.340
. . . . . . g.24962
GTGACCAGTGAAGTTCTCACTTGCATTAAGCTGATTAAAATGTACACATGGGAGAAACCA c.1080
V T S E V L T C I K L I K M Y T W E K P p.360
. | 09 . . . . g.25189
TTTGCAAAAATCATTGAAG | ACCTAAGAAGGAAGGAAAGGAAACTATTGGAGAAGTGCGGG c.1140
F A K I I E D | L R R K E R K L L E K C G p.380
. . . . . . g.25249
CTTGTCCAGAGCCTGACAAGTATAACCTTGTTCATCATCCCCACAGTGGCCACAGCGGTC c.1200
L V Q S L T S I T L F I I P T V A T A V p.400
. . . . | 10 . g.26639
TGGGTTCTCATCCACACATCCTTAAAGCTGAAACTCACAGCGTCAATG | GCCTTCAGCATG c.1260
W V L I H T S L K L K L T A S M | A F S M p.420
. . . . . . g.26699
CTGGCCTCCTTGAATCTCCTTCGGCTGTCAGTGTTCTTTGTGCCTATTGCAGTCAAAGGT c.1320
L A S L N L L R L S V F F V P I A V K G p.440
. . . | 11 . . . g.29002
CTCACGAATTCCAAGTCTGCAGTGATGAGGTTCAAG | AAGTTTTTCCTCCAGGAGAGCCCT c.1380
L T N S K S A V M R F K | K F F L Q E S P p.460
. . . . . . g.29062
GTTTTCTATGTCCAGACATTACAAGACCCCAGCAAAGCTCTGGTCTTTGAGGAGGCCACC c.1440
V F Y V Q T L Q D P S K A L V F E E A T p.480
. . . . . . g.29122
TTGTCATGGCAACAGACCTGTCCCGGGATCGTCAATGGGGCACTGGAGCTGGAGAGGAAC c.1500
L S W Q Q T C P G I V N G A L E L E R N p.500
. . . . . . g.29182
GGGCATGCTTCTGAGGGGATGACCAGGCCTAGAGATGCCCTCGGGCCAGAGGAAGAAGGG c.1560
G H A S E G M T R P R D A L G P E E E G p.520
. . . . | 12 . g.31693
AACAGCCTGGGCCCAGAGTTGCACAAGATCAACCTGGTGGTGTCCAAG | GGGATGATGTTA c.1620
N S L G P E L H K I N L V V S K | G M M L p.540
. . . . . . g.31753
GGGGTCTGCGGCAACACGGGGAGTGGTAAGAGCAGCCTGTTGTCAGCCATCCTGGAGGAG c.1680
G V C G N T G S G K S S L L S A I L E E p.560
| 13 . . . . . . g.34700
| ATGCACTTGCTCGAGGGCTCGGTGGGGGTGCAGGGAAGCCTGGCCTATGTCCCCCAGCAG c.1740
| M H L L E G S V G V Q G S L A Y V P Q Q p.580
. . . . . . g.34760
GCCTGGATCGTCAGCGGGAACATCAGGGAGAACATCCTCATGGGAGGCGCATATGACAAG c.1800
A W I V S G N I R E N I L M G G A Y D K p.600
| 14 . . . . . . g.36932
GCCCG | ATACCTCCAGGTGCTCCACTGCTGCTCCCTGAATCGGGACCTGGAACTTCTGCCC c.1860
A R | Y L Q V L H C C S L N R D L E L L P p.620
. | 15 . . . . g.39740
TTTGGAGACATGACAGAG | ATTGGAGAGCGGGGCCTCAACCTCTCTGGGGGGCAGAAACAG c.1920
F G D M T E | I G E R G L N L S G G Q K Q p.640
. . . . . . g.39800
AGGATCAGCCTGGCCCGCGCCGTCTATTCCGACCGTCAGATCTACCTGCTGGACGACCCC c.1980
R I S L A R A V Y S D R Q I Y L L D D P p.660
. . . . . . g.39860
CTGTCTGCTGTGGACGCCCACGTGGGGAAGCACATTTTTGAGGAGTGCATTAAGAAGACA c.2040
L S A V D A H V G K H I F E E C I K K T p.680
. . . . | 16 . . g.41920
CTCAGGGGGAAGACGGTCGTCCTGGTGACCCACCAGCTGCAG | TACTTAGAATTTTGTGGC c.2100
L R G K T V V L V T H Q L Q | Y L E F C G p.700
. . . . . . g.41980
CAGATCATTTTGTTGGAAAATGGGAAAATCTGTGAAAATGGAACTCACAGTGAGTTAATG c.2160
Q I I L L E N G K I C E N G T H S E L M p.720
. . . . . | 17. g.42113
CAGAAAAAGGGGAAATATGCCCAACTTATCCAGAAGATGCACAAGGAAGCCACTTCG | GAC c.2220
Q K K G K Y A Q L I Q K M H K E A T S | D p.740
. . . . . . g.42173
ATGTTGCAGGACACAGCAAAGATAGCAGAGAAGCCAAAGGTAGAAAGTCAGGCTCTGGCC c.2280
M L Q D T A K I A E K P K V E S Q A L A p.760
. . . | 18 . . . g.43882
ACCTCCCTGGAAGAGTCTCTCAACGGAAATGCTG | TGCCGGAGCATCAGCTCACACAGGAG c.2340
T S L E E S L N G N A V | P E H Q L T Q E p.780
. . . . . . g.43942
GAGGAGATGGAAGAAGGCTCCTTGAGTTGGAGGGTCTACCACCACTACATCCAGGCAGCT c.2400
E E M E E G S L S W R V Y H H Y I Q A A p.800
| 19 . . . . . . g.46251
GGAG | GTTACATGGTCTCTTGCATAATTTTCTTCTTCGTGGTGCTGATCGTCTTCTTAACG c.2460
G G | Y M V S C I I F F F V V L I V F L T p.820
. . . . | 20 . g.47472
ATCTTCAGCTTCTGGTGGCTGAGCTACTGGTTGGAGCAGGGCTCGGGG | ACCAATAGCAGC c.2520
I F S F W W L S Y W L E Q G S G | T N S S p.840
. . . . . . g.47532
CGAGAGAGCAATGGAACCATGGCAGACCTGGGCAACATTGCAGACAATCCTCAACTGTCC c.2580
R E S N G T M A D L G N I A D N P Q L S p.860
. . . . . . g.47592
TTCTACCAGCTGGTGTACGGGCTCAACGCCCTGCTCCTCATCTGTGTGGGGGTCTGCTCC c.2640
F Y Q L V Y G L N A L L L I C V G V C S p.880
. . . . . . g.47652
TCAGGGATTTTCACCAAGGTCACGAGGAAGGCATCCACGGCCCTGCACAACAAGCTCTTC c.2700
S G I F T K V T R K A S T A L H N K L F p.900
| 21 . . . . . . g.52804
AACAAG | GTTTTCCGCTGCCCCATGAGTTTCTTTGACACCATCCCAATAGGCCGGCTTTTG c.2760
N K | V F R C P M S F F D T I P I G R L L p.920
. . . . . . g.52864
AACTGCTTCGCAGGGGACTTGGAACAGCTGGACCAGCTCTTGCCCATCTTTTCAGAGCAG c.2820
N C F A G D L E Q L D Q L L P I F S E Q p.940
. . . . . . g.52924
TTCCTGGTCCTGTCCTTAATGGTGATCGCCGTCCTGTTGATTGTCAGTGTGCTGTCTCCA c.2880
F L V L S L M V I A V L L I V S V L S P p.960
. . . . . | 22 . g.53094
TATATCCTGTTAATGGGAGCCATAATCATGGTTATTTGCTTCATTTATTATAT | GATGTTC c.2940
Y I L L M G A I I M V I C F I Y Y M | M F p.980
. . . . . . g.53154
AAGAAGGCCATCGGTGTGTTCAAGAGACTGGAGAACTATAGCCGGTCTCCTTTATTCTCC c.3000
K K A I G V F K R L E N Y S R S P L F S p.1000
. . . . . . g.53214
CACATCCTCAATTCTCTGCAAGGCCTGAGCTCCATCCATGTCTATGGAAAAACTGAAGAC c.3060
H I L N S L Q G L S S I H V Y G K T E D p.1020
. | 23 . . . . . g.55600
TTCATCAGCCA | GTTTAAGAGGCTGACTGATGCGCAGAATAACTACCTGCTGTTGTTTCTA c.3120
F I S Q | F K R L T D A Q N N Y L L L F L p.1040
. . . . . . g.55660
TCTTCCACACGATGGATGGCATTGAGGCTGGAGATCATGACCAACCTTGTGACCTTGGCT c.3180
S S T R W M A L R L E I M T N L V T L A p.1060
. . . . . . g.55720
GTTGCCCTGTTCGTGGCTTTTGGCATTTCCTCCACCCCCTACTCCTTTAAAGTCATGGCT c.3240
V A L F V A F G I S S T P Y S F K V M A p.1080
. | 24 . . . . g.61533
GTCAACATCGTGCTGCAG | CTGGCGTCCAGCTTCCAGGCCACTGCCCGGATTGGCTTGGAG c.3300
V N I V L Q | L A S S F Q A T A R I G L E p.1100
. . . . | 25 . g.63076
ACAGAGGCACAGTTCACGGCTGTAGAGAGGATACTGCAGTACATGAAG | ATGTGTGTCTCG c.3360
T E A Q F T A V E R I L Q Y M K | M C V S p.1120
. . . . . . g.63136
GAAGCTCCTTTACACATGGAAGGCACAAGTTGTCCCCAGGGGTGGCCACAGCATGGGGAA c.3420
E A P L H M E G T S C P Q G W P Q H G E p.1140
. . . . . . g.63196
ATCATATTTCAGGATTATCACATGAAATACAGAGACAACACACCCACCGTGCTTCACGGC c.3480
I I F Q D Y H M K Y R D N T P T V L H G p.1160
. . . . . | 26 g.64762
ATCAACCTGACCATCCGCGGCCACGAAGTGGTGGGCATCGTGGGAAGGACGGGCTCTG | GG c.3540
I N L T I R G H E V V G I V G R T G S G | p.1180
. . . . . . g.64822
AAGTCCTCCTTGGGCATGGCTCTCTTCCGCCTGGTGGAGCCCATGGCAGGCCGGATTCTC c.3600
K S S L G M A L F R L V E P M A G R I L p.1200
. . . . . . g.64882
ATTGACGGCGTGGACATTTGCAGCATCGGCCTGGAGGACTTGCGGTCCAAGCTCTCAGTG c.3660
I D G V D I C S I G L E D L R S K L S V p.1220
. . . | 27 . . g.69232
ATCCCTCAAGATCCAGTGCTGCTCTCAGGAACCATCAG | ATTCAACCTAGATCCCTTTGAC c.3720
I P Q D P V L L S G T I R | F N L D P F D p.1240
. . . . . | 28. g.69962
CGTCACACTGACCAGCAGATCTGGGATGCCTTGGAGAGGACATTCCTGACCAAGGCC | ATC c.3780
R H T D Q Q I W D A L E R T F L T K A | I p.1260
. . . . . . g.70022
TCAAAGTTCCCCAAAAAGCTGCATACAGATGTGGTGGAAAACGGTGGAAACTTCTCTGTG c.3840
S K F P K K L H T D V V E N G G N F S V p.1280
. . . . . | 29 . g.72526
GGGGAGAGGCAGCTGCTCTGCATTGCCAGGGCTGTGCTTCGCAACTCCAAG | ATCATCCTT c.3900
G E R Q L L C I A R A V L R N S K | I I L p.1300
. . . . . . g.72586
ATCGATGAAGCCACAGCCTCCATTGACATGGAGACAGACACCCTGATCCAGCGCACAATC c.3960
I D E A T A S I D M E T D T L I Q R T I p.1320
. . . . . . g.72646
CGTGAAGCCTTCCAGGGCTGCACCGTGCTCGTCATTGCCCACCGTGTCACCACTGTGCTG c.4020
R E A F Q G C T V L V I A H R V T T V L p.1340
. . . | 30 . . . g.72835
AACTGTGACCACATCCTGGTTATGGGCAATGGGAAG | GTGGTAGAATTTGATCGGCCGGAG c.4080
N C D H I L V M G N G K | V V E F D R P E p.1360
. . . . . . g.72895
GTACTGCGGAAGAAGCCTGGGTCATTGTTCGCAGCCCTCATGGCCACAGCCACTTCTTCA c.4140
V L R K K P G S L F A A L M A T A T S S p.1380
g.72904
CTGAGATAA c.4149
L R X p.1382
. . . . . . g.72964
ggagatgtggagacttcatggaggctggcagctgagctcagaggttcacacaggtgcagc c.*60
. . . . . . g.73024
ttcgaggcccacagtctgcgaccttcttgtttggagatgagaacttctcctggaagcagg c.*120
. . . . . . g.73084
ggtaaatgtagggggggtggggattgctggatggaaaccctggaataggctacttgatgg c.*180
. . . . . . g.73144
ctctcaagaccttagaaccccagaaccatctaagacatgggattcagtgatcatgtggtt c.*240
. . . . . . g.73204
ctccttttaacttacatgctgaataattttataataaggtaaaagcttatagttttctga c.*300
. . . . . . g.73264
tctgtgttagaagtgttgcaaatgctgtactgactttgtaaaatataaaactaaggaaaa c.*360
g.73267
ctc c.*363
(downstream sequence)
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