(used for variant description)
(last modified June 18, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_005691.2 in the ABCC9 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012819.1, covering ABCC9 transcript NM_005691.2.
(upstream sequence)
. . g.5020
agtaaaccatataagaagaa c.-1
. . . . . . g.5080
ATGAGCCTTTCATTTTGTGGTAACAACATTTCTTCATATAATATCAACGATGGTGTACTA c.60
M S L S F C G N N I S S Y N I N D G V L p.20
. . . . . . g.5140
CAAAATTCCTGCTTTGTGGATGCCCTCAACCTGGTCCCTCATGTCTTTCTGTTGTTTATC c.120
Q N S C F V D A L N L V P H V F L L F I p.40
. . | 02 . . . . g.7809
ACTTTTCCAATATTGTTTATTG | GGTGGGGGAGCCAAAGCTCAAAAGTACAAATTCACCAC c.180
T F P I L F I G | W G S Q S S K V Q I H H p.60
. . . . . . g.7869
AACACATGGCTTCATTTTCCGGGACATAACCTGAGATGGATTCTTACATTCGCTCTCCTG c.240
N T W L H F P G H N L R W I L T F A L L p.80
. . . . | 03 . . g.15647
TTTGTGCATGTCTGTGAAATAGCAGAAGGCATTGTTTCAGACTC | GCGGCGGGAATCAAGG c.300
F V H V C E I A E G I V S D S | R R E S R p.100
. . . . . . g.15707
CACCTCCACCTCTTTATGCCAGCCGTGATGGGATTCGTTGCCACTACAACATCGATAGTG c.360
H L H L F M P A V M G F V A T T T S I V p.120
. . . . | 04 . . g.24605
TATTATCATAATATCGAAACATCAAATTTTCCTAAATTACTTTTAG | CCCTGTTCCTGTAT c.420
Y Y H N I E T S N F P K L L L A | L F L Y p.140
. . . . . . g.24665
TGGGTAATGGCCTTTATTACAAAAACAATAAAATTGGTTAAGTACTGTCAGTCTGGCTTG c.480
W V M A F I T K T I K L V K Y C Q S G L p.160
. . . . . . g.24725
GACATATCAAACCTGCGTTTCTGCATCACAGGCATGATGGTCATCTTGAATGGGCTCTTG c.540
D I S N L R F C I T G M M V I L N G L L p.180
. . . | 05 . . . g.25811
ATGGCTGTGGAGATCAATGTCATTCGAGTCAGG | AGATATGTATTTTTCATGAATCCTCAG c.600
M A V E I N V I R V R | R Y V F F M N P Q p.200
. . . . . . g.25871
AAAGTAAAGCCTCCTGAAGACCTCCAGGATCTGGGAGTGAGATTTCTTCAACCATTTGTG c.660
K V K P P E D L Q D L G V R F L Q P F V p.220
. . . . . . g.25931
AATTTGCTGTCAAAAGCAACATACTGGTGGATGAACACACTTATTATATCTGCTCACAAA c.720
N L L S K A T Y W W M N T L I I S A H K p.240
. . . . . . g.25991
AAGCCTATTGATCTGAAGGCAATTGGAAAATTGCCAATAGCAATGAGAGCAGTAACAAAT c.780
K P I D L K A I G K L P I A M R A V T N p.260
. . . | 06 . . . g.28652
TATGTTTGCCTGAAAGATGCATATGAAGAACAAAAG | AAAAAAGTTGCAGATCATCCAAAT c.840
Y V C L K D A Y E E Q K | K K V A D H P N p.280
. . . . . . g.28712
CGGACTCCATCTATATGGCTTGCAATGTACAGAGCTTTTGGGCGACCAATTCTACTTAGT c.900
R T P S I W L A M Y R A F G R P I L L S p.300
. . . . . . g.28772
AGCACATTCCGCTATCTGGCTGATTTACTGGGTTTTGCTGGACCTCTTTGTATTTCTGGA c.960
S T F R Y L A D L L G F A G P L C I S G p.320
. . . . . | 07 . g.30725
ATAGTTCAGCGTGTGAATGAAACCCAGAATGGGACAAATAACACAACTGGA | ATTTCAGAA c.1020
I V Q R V N E T Q N G T N N T T G | I S E p.340
. . . . . . g.30785
ACCCTCTCATCAAAGGAATTTCTTGAAAACGCTTACGTTCTAGCAGTTCTTCTCTTCTTG c.1080
T L S S K E F L E N A Y V L A V L L F L p.360
. . . . . . g.30845
GCTCTTATTCTGCAAAGGACATTTTTGCAGGCTTCCTACTATGTAACCATAGAGACTGGC c.1140
A L I L Q R T F L Q A S Y Y V T I E T G p.380
. . | 08 . . . . g.31418
ATTAACCTCCGTGGAGCTCTGCTG | GCCATGATTTATAATAAAATCCTTAGGCTCTCTACG c.1200
I N L R G A L L | A M I Y N K I L R L S T p.400
. . . . . . g.31478
TCTAACTTATCCATGGGGGAGATGACTCTGGGGCAGATCAACAACTTAGTCGCCATTGAA c.1260
S N L S M G E M T L G Q I N N L V A I E p.420
. . . . . . g.31538
ACTAATCAACTCATGTGGTTTTTGTTCCTGTGTCCTAATCTATGGGCTATGCCTGTTCAG c.1320
T N Q L M W F L F L C P N L W A M P V Q p.440
| 09 . . . . . . g.33543
| ATCATAATGGGCGTGATTCTGCTCTATAATTTACTTGGATCAAGTGCATTGGTCGGTGCA c.1380
| I I M G V I L L Y N L L G S S A L V G A p.460
. . . . . . g.33603
GCTGTCATTGTGCTCCTTGCGCCAATTCAGTACTTTATTGCTACAAAGTTGGCAGAGGCT c.1440
A V I V L L A P I Q Y F I A T K L A E A p.480
. | 10 . . . . . g.35451
CAGAAAAGTACACTT | GATTATTCCACTGAGAGACTCAAGAAAACAAATGAAATATTGAAA c.1500
Q K S T L | D Y S T E R L K K T N E I L K p.500
. . . . . . g.35511
GGCATCAAACTTCTAAAATTGTATGCCTGGGAACACATTTTCTGCAAAAGTGTGGAGGAA c.1560
G I K L L K L Y A W E H I F C K S V E E p.520
. . . . . | 11 g.46381
ACAAGAATGAAAGAACTATCTAGTCTCAAAACCTTTGCACTATATACATCACTCTCCA | TC c.1620
T R M K E L S S L K T F A L Y T S L S I | p.540
. . . | 12 . . g.47541
TTCATGAATGCAGCAATTCCCATAGCAGCTGTTCTTGCT | ACATTTGTGACCCATGCGTAT c.1680
F M N A A I P I A A V L A | T F V T H A Y p.560
. . . . . . g.47601
GCCAGTGGAAACAATCTGAAACCTGCAGAGGCCTTTGCTTCACTGTCTCTCTTCCATATC c.1740
A S G N N L K P A E A F A S L S L F H I p.580
. . . . . . g.47661
CTGGTCACACCACTGTTCCTGCTCTCCACGGTGGTCAGATTTGCAGTCAAAGCCATCATA c.1800
L V T P L F L L S T V V R F A V K A I I p.600
| 13 . . . . . . g.53818
AG | TGTTCAAAAGCTGAATGAGTTTCTCTTGAGTGATGAGATTGGTGACGACAGTTGGCGA c.1860
S | V Q K L N E F L L S D E I G D D S W R p.620
. . . . . | 14 . g.58830
ACTGGTGAAAGTTCGCTTCCTTTTGAGTCCTGTAAGAAGCACACTGGAGTT | CAGCCAAAA c.1920
T G E S S L P F E S C K K H T G V | Q P K p.640
. . . . . . g.58890
ACTATAAACAGGAAACAGCCTGGAAGATATCACCTGGACAGCTATGAGCAATCAACACGG c.1980
T I N R K Q P G R Y H L D S Y E Q S T R p.660
. . . | 15 . . g.65989
CGTCTACGTCCCGCAGAAACAGAGGACATTGCAATAAAG | GTCACAAATGGATACTTTTCA c.2040
R L R P A E T E D I A I K | V T N G Y F S p.680
. . . . . | 16 . g.68972
TGGGGCAGTGGTTTAGCTACATTATCCAATATAGATATTCGAATTCCAACAG | GTCAGTTA c.2100
W G S G L A T L S N I D I R I P T G | Q L p.700
. . . . . . g.69032
ACCATGATTGTGGGCCAAGTAGGATGTGGGAAGTCCTCTCTTCTCCTTGCCATCCTCGGT c.2160
T M I V G Q V G C G K S S L L L A I L G p.720
. . . | 17 . . g.77239
GAGATGCAGACATTGGAAGGAAAAGTTCACTGGAGCAA | TGTAAATGAATCTGAGCCTTCT c.2220
E M Q T L E G K V H W S N | V N E S E P S p.740
. | 18. . . . . g.78683
TTTGAAGCAACCAGAAG | TAGGAACAGGTACTCTGTGGCATATGCAGCTCAAAAGCCTTGG c.2280
F E A T R S | R N R Y S V A Y A A Q K P W p.760
. . . . . | 19 g.80640
CTATTAAATGCTACAGTAGAAGAAAATATTACTTTTGGAAGTCCTTTTAACAAACAGAG | G c.2340
L L N A T V E E N I T F G S P F N K Q R | p.780
. . . . . . g.80700
TACAAAGCTGTCACAGATGCCTGTTCTCTTCAGCCAGATATTGACTTATTACCATTTGGA c.2400
Y K A V T D A C S L Q P D I D L L P F G p.800
. . | 20 . . . . g.82064
GATCAAACTGAAATTGGAGAGAGG | GGCATCAACCTGAGTGGGGGACAGAGGCAGAGAATC c.2460
D Q T E I G E R | G I N L S G G Q R Q R I p.820
. . . . | 21 . . g.89204
TGTGTGGCACGAGCGCTGTATCAAAACACCAACATTGTCTTTTTG | GATGATCCATTCTCA c.2520
C V A R A L Y Q N T N I V F L | D D P F S p.840
. . . . . . g.89264
GCCCTGGACATTCACTTGAGTGATCATTTAATGCAGGAGGGGATTTTGAAATTCCTGCAA c.2580
A L D I H L S D H L M Q E G I L K F L Q p.860
. . . . . . g.89324
GATGACAAAAGGACACTCGTTCTTGTGACTCACAAATTACAGTATCTGACGCATGCTGAC c.2640
D D K R T L V L V T H K L Q Y L T H A D p.880
| 22 . . . . . . g.89529
TGG | ATCATAGCCATGAAAGATGGAAGTGTCCTAAGAGAAGGAACTTTGAAGGACATTCAA c.2700
W | I I A M K D G S V L R E G T L K D I Q p.900
. . . . . . g.89589
ACCAAAGATGTTGAGCTTTATGAACACTGGAAAACACTTATGAATCGGCAAGATCAAGAA c.2760
T K D V E L Y E H W K T L M N R Q D Q E p.920
| 23 . . . . . g.93499
TTAGAAAAG | GATATGGAAGCTGACCAAACTACTTTAGAGAGGAAAACTCTCCGACGGGCC c.2820
L E K | D M E A D Q T T L E R K T L R R A p.940
. . . . | 24 . . g.95876
ATGTATTCAAGAGAAGCCAAAGCCCAGATGGAGGACGAAGACGAAG | AGGAAGAAGAGGAG c.2880
M Y S R E A K A Q M E D E D E E | E E E E p.960
. . . . . . g.95936
GAAGATGAGGATGATAACATGTCCACTGTAATGAGGCTCAGGACTAAAATGCCATGGAAA c.2940
E D E D D N M S T V M R L R T K M P W K p.980
. . . . . . g.95996
ACCTGCTGGCGCTACCTGACATCTGGAGGATTCTTCCTGCTCATCCTGATGATTTTCTCT c.3000
T C W R Y L T S G G F F L L I L M I F S p.1000
. . . . . . g.96056
AAGCTTTTGAAGCATTCGGTCATTGTAGCTATAGACTATTGGCTGGCCACATGGACATCG c.3060
K L L K H S V I V A I D Y W L A T W T S p.1020
. . . | 25 . . . g.96803
GAGTACAGTATAAACAATACTGGAAAAGCTGATCAG | ACCTACTATGTGGCTGGCTTTAGC c.3120
E Y S I N N T G K A D Q | T Y Y V A G F S p.1040
. . . . . . g.96863
ATACTCTGTGGAGCAGGCATTTTCCTTTGCCTTGTTACATCCCTCACTGTAGAATGGATG c.3180
I L C G A G I F L C L V T S L T V E W M p.1060
. . . . . . g.96923
GGTCTCACAGCTGCCAAAAATCTTCACCACAACCTTCTCAATAAGATAATCCTTGGACCA c.3240
G L T A A K N L H H N L L N K I I L G P p.1080
| 26 . . . . . . g.97197
ATAAG | GTTTTTTGATACCACACCCCTGGGACTGATTCTCAATCGCTTTTCAGCTGATACT c.3300
I R | F F D T T P L G L I L N R F S A D T p.1100
. | 27 . . . . . g.99268
AATATCATTGATCAG | CACATCCCTCCAACCTTGGAATCTCTAACTCGCTCAACACTGCTC c.3360
N I I D Q | H I P P T L E S L T R S T L L p.1120
. . . . . . g.99328
TGCCTGTCTGCCATTGGGATGATTTCTTATGCTACTCCTGTGTTCCTGGTTGCTCTCCTG c.3420
C L S A I G M I S Y A T P V F L V A L L p.1140
. . . . . | 28 . g.103531
CCCCTTGGTGTTGCCTTTTATTTTATCCAGAAATACTTTCGGGTTGCCTCTAA | GGACCTC c.3480
P L G V A F Y F I Q K Y F R V A S K | D L p.1160
. . . . . . g.103591
CAGGAACTTGACGATAGTACCCAGCTCCCTCTGCTCTGTCACTTCTCAGAAACAGCAGAA c.3540
Q E L D D S T Q L P L L C H F S E T A E p.1180
. . | 29 . . . . g.112668
GGACTCACCACCATTCGGGCCTTTAG | GCATGAAACCAGATTTAAACAACGTATGCTGGAA c.3600
G L T T I R A F R | H E T R F K Q R M L E p.1200
. . . . . . g.112728
CTGACGGATACAAACAACATTGCCTACTTATTTCTCTCAGCTGCCAACAGATGGCTGGAG c.3660
L T D T N N I A Y L F L S A A N R W L E p.1220
| 30 . . . . . g.123494
GTCAGGACG | GATTATCTGGGAGCTTGCATTGTCCTCACTGCATCTATAGCATCCATTAGT c.3720
V R T | D Y L G A C I V L T A S I A S I S p.1240
. . . . . | 31 . g.124396
GGGTCTTCGAATTCTGGATTGGTAGGCTTGGGTCTTCTGTATGCACTTACG | ATAACCAAT c.3780
G S S N S G L V G L G L L Y A L T | I T N p.1260
. . . . . . g.124456
TATTTGAATTGGGTTGTGAGGAACTTGGCTGACCTGGAGGTCCAGATGGGTGCAGTGAAG c.3840
Y L N W V V R N L A D L E V Q M G A V K p.1280
. . . . . | 32 . g.125809
AAGGTGAACAGTTTCCTGACTATGGAGTCAGAGAACTATGAAGGCACAATGG | ATCCTTCT c.3900
K V N S F L T M E S E N Y E G T M D | P S p.1300
. . . . . . g.125869
CAAGTTCCAGAACATTGGCCACAAGAAGGGGAGATCAAGATACATGATCTGTGTGTCAGA c.3960
Q V P E H W P Q E G E I K I H D L C V R p.1320
. . . . . . g.125929
TATGAAAATAATCTGAAACCTGTTCTTAAGCACGTCAAGGCTTACATCAAACCTGGACAA c.4020
Y E N N L K P V L K H V K A Y I K P G Q p.1340
| 33 . . . . . . g.127029
AAG | GTGGGCATATGTGGTCGCACTGGCAGTGGGAAATCATCGTTATCTCTGGCTTTCTTC c.4080
K | V G I C G R T G S G K S S L S L A F F p.1360
. . | 34 . . . . g.129575
AGAATGGTTGATATATTTGATG | GAAAAATTGTCATTGATGGGATAGACATTTCCAAATTA c.4140
R M V D I F D G | K I V I D G I D I S K L p.1380
. . . . . . g.129635
CCACTGCACACACTACGTTCTAGACTTTCAATCATTCTGCAGGATCCAATACTATTCAGT c.4200
P L H T L R S R L S I I L Q D P I L F S p.1400
. | 35 . . . . . g.131788
GGTTCCATTAG | ATTTAATTTAGATCCAGAGTGCAAATGCACAGATGACAGACTCTGGGAA c.4260
G S I R | F N L D P E C K C T D D R L W E p.1420
. . . . . | 36 . g.134220
GCCTTAGAAATTGCTCAGCTGAAGAATATGGTCAAATCTCTACCTGGAGGTCTAG | ATGCG c.4320
A L E I A Q L K N M V K S L P G G L D | A p.1440
. . . . . . g.134280
GTTGTCACTGAAGGTGGGGAGAATTTTAGCGTTGGACAGAGACAGCTATTTTGCCTTGCC c.4380
V V T E G G E N F S V G Q R Q L F C L A p.1460
. . . . . . g.134340
AGGGCCTTTGTCCGCAAAAGCAGCATTCTTATTATGGATGAGGCAACAGCTTCCATTGAC c.4440
R A F V R K S S I L I M D E A T A S I D p.1480
| 37 . . . . . g.135685
ATGGCCACA | GAGAATATTTTGCAAAAAGTAGTAATGACAGCCTTTGCAGACCGGACCGTG c.4500
M A T | E N I L Q K V V M T A F A D R T V p.1500
. | 38 . . . . . g.136431
GTGACAATAGCT | CACCGTGTCTCTTCTATTATGGATGCAGGCCTTGTTTTAGTCTTTTCT c.4560
V T I A | H R V S S I M D A G L V L V F S p.1520
. . . . . . g.136491
GAGGGTATTTTAGTGGAGTGTGATACTGTCCCAAATTTGCTCGCCCACAAGAATGGCCTC c.4620
E G I L V E C D T V P N L L A H K N G L p.1540
. . . g.136521
TTTTCCACTTTGGTGATGACCAACAAGTAG c.4650
F S T L V M T N K X p.1549
(downstream sequence)
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