(used for variant description)
(last modified November 17, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_004299.4 in the ABCB7 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007980.1, covering ABCB7 transcript NM_004299.4.
(upstream sequence)
g.4965
aggtagcc c.-61
. . . . . . g.5025
gaattcagtccgccagtgtcccataatcctcttctctcggttcctctttcctcgctcaag c.-1
. . . . . . g.5085
ATGGCGCTGCTCGCGATGCATTCTTGGCGCTGGGCGGCCGCGGCGGCTGCTTTCGAAAAG c.60
M A L L A M H S W R W A A A A A A F E K p.20
. . . . . . g.5145
CGCCGGCACTCCGCGATTCTGATCCGGCCTTTAGTCTCTGTTAGCGGCTCAGGTCCGCAG c.120
R R H S A I L I R P L V S V S G S G P Q p.40
. . . . | 02 . g.46475
TGGAGGCCACATCAACTCGGCGCCTTGGGAACCGCTCGAGCCTACCAG | CAGATTCCAGAG c.180
W R P H Q L G A L G T A R A Y Q | Q I P E p.60
. . . . . . g.46535
TCATTAAAAAGTATCACATGGCAGAGATTGGGAAAAGGCAATTCAGGACAGTTCTTAGAT c.240
S L K S I T W Q R L G K G N S G Q F L D p.80
| 03 . . . . . g.48376
GCTGCAAAG | GCTCTCCAGGTATGGCCACTGATAGAAAAGAGGACATGTTGGCATGGTCAT c.300
A A K | A L Q V W P L I E K R T C W H G H p.100
. . . | 04 . . . g.62260
GCAGGAGGAGGACTCCACACAGACCCAAAAGAAGGG | TTAAAAGATGTTGATACTCGGAAA c.360
A G G G L H T D P K E G | L K D V D T R K p.120
. . . . . . g.62320
ATCATAAAAGCAATGCTTTCTTATGTGTGGCCCAAAGACAGGCCAGATCTACGAGCTAGA c.420
I I K A M L S Y V W P K D R P D L R A R p.140
. . . | 05 . . . g.84667
GTTGCCATTTCGCTGGGATTTTTGGGTGGTGCAAAG | GCCATGAATATTGTGGTTCCCTTC c.480
V A I S L G F L G G A K | A M N I V V P F p.160
. . . . . . g.84727
ATGTTTAAATATGCTGTAGACAGCCTCAACCAGATGTCGGGAAACATGCTGAACCTGAGT c.540
M F K Y A V D S L N Q M S G N M L N L S p.180
. . . . | 06 . g.85678
GATGCACCAAATACAGTTGCAACCATGGCAACAGCAGTTCTGATTGGCT | ATGGTGTATCA c.600
D A P N T V A T M A T A V L I G Y | G V S p.200
. . . . . . g.85738
AGAGCTGGAGCTGCTTTTTTTAACGAAGTTCGAAATGCAGTATTTGGCAAGGTAGCCCAG c.660
R A G A A F F N E V R N A V F G K V A Q p.220
. . . . . . g.85798
AATTCAATCCGAAGAATAGCCAAAAATGTCTTTCTCCATCTTCACAACCTGGATCTGGGT c.720
N S I R R I A K N V F L H L H N L D L G p.240
. . . . . . g.85858
TTTCACCTGAGCAGACAGACGGGAGCTTTATCTAAGGCTATTGACAGAGGAACAAGGGGT c.780
F H L S R Q T G A L S K A I D R G T R G p.260
. . . . . . g.85918
ATCAGTTTTGTCCTGAGTGCTTTGGTATTTAATCTTCTTCCCATCATGTTTGAAGTGATG c.840
I S F V L S A L V F N L L P I M F E V M p.280
. | 07 . . . . g.87383
CTTGTCAGTGGTGTTTTG | TATTACAAATGCGGTGCCCAGTTTGCTTTGGTAACCCTTGGA c.900
L V S G V L | Y Y K C G A Q F A L V T L G p.300
. . . . | 08. . g.87534
ACACTTGGTACATACACAGCATTCACAGTTGCAGTCACACGGTGGAG | AACTAGATTTAGA c.960
T L G T Y T A F T V A V T R W R | T R F R p.320
. . . . . . g.87594
ATAGAAATGAACAAAGCAGATAATGATGCAGGTAATGCTGCTATAGACTCACTGCTGAAT c.1020
I E M N K A D N D A G N A A I D S L L N p.340
. | 09 . . . . . g.89659
TATGAAACTGTGAAG | TATTTTAATAATGAAAGATATGAAGCACAGAGATATGATGGATTT c.1080
Y E T V K | Y F N N E R Y E A Q R Y D G F p.360
. . . . . . g.89719
TTGAAGACGTATGAGACTGCTTCATTGAAAAGTACCTCTACTCTGGCTATGCTGAACTTT c.1140
L K T Y E T A S L K S T S T L A M L N F p.380
. . . . . . g.89779
GGTCAAAGTGCTATTTTCAGTGTCGGTTTAACAGCTATAATGGTGCTCGCCAGTCAGGGA c.1200
G Q S A I F S V G L T A I M V L A S Q G p.400
. | 10 . . . . . g.90825
ATTGTGGCAG | GTACCCTTACTGTTGGAGATCTAGTAATGGTGAATGGACTGCTTTTTCAG c.1260
I V A G | T L T V G D L V M V N G L L F Q p.420
. . . . . . g.90885
CTTTCATTACCCCTGAACTTTCTGGGAACTGTATATAGAGAGACTAGACAAGCACTCATA c.1320
L S L P L N F L G T V Y R E T R Q A L I p.440
. . . . | 11 . g.91855
GATATGAACACCTTGTTTACTCTACTCAAGGTAGACACCCAAATTAAA | GACAAAGTGATG c.1380
D M N T L F T L L K V D T Q I K | D K V M p.460
. . . . . . g.91915
GCATCTCCCCTTCAGATCACACCACAGACAGCTACCGTGGCCTTTGATAATGTGCATTTT c.1440
A S P L Q I T P Q T A T V A F D N V H F p.480
. . . . . . g.91975
GAATACATTGAGGGCCAGAAAGTCCTTAGTGGAATATCCTTTGAAGTCCCTGCAGGAAAG c.1500
E Y I E G Q K V L S G I S F E V P A G K p.500
. . . | 12 . . . g.92189
AAAGTGGCCATTGTAGGAGGTAGTGGGTCAGG | GAAAAGCACAATAGTGAGGCTATTATTT c.1560
K V A I V G G S G S G | K S T I V R L L F p.520
. . . . . . g.92249
CGCTTCTATGAGCCTCAAAAGGGTAGCATTTATCTTGCTGGTCAAAATATACAAGATGTG c.1620
R F Y E P Q K G S I Y L A G Q N I Q D V p.540
. . . . | 13 . . g.96074
AGCCTGGAAAGCCTTCGGAGGGCAGTGGGAGTGGTACCTCAG | GATGCTGTCCTCTTCCAT c.1680
S L E S L R R A V G V V P Q | D A V L F H p.560
. . . . . . g.96134
AATACTATTTATTACAACCTCTTATATGGAAACATCAGTGCTTCACCTGAGGAAGTGTAT c.1740
N T I Y Y N L L Y G N I S A S P E E V Y p.580
. . . . . . g.96194
GCAGTGGCAAAATTAGCTGGACTTCATGATGCAATTCTTCGAATGCCACATGGATATGAC c.1800
A V A K L A G L H D A I L R M P H G Y D p.600
. . . | 14 . . . g.98892
ACCCAAGTAGGGGAACGAGGACTCAAGCTTTCAG | GAGGAGAAAAGCAAAGAGTAGCAATT c.1860
T Q V G E R G L K L S G | G E K Q R V A I p.620
. . . . . . g.98952
GCAAGAGCCATTTTGAAGGACCCCCCAGTCATACTCTATGATGAAGCTACTTCATCGTTA c.1920
A R A I L K D P P V I L Y D E A T S S L p.640
. | 15 . . . . g.101009
GATTCGATTACTGAAGAG | ACTATTCTTGGTGCCATGAAGGATGTGGTCAAACACAGAACT c.1980
D S I T E E | T I L G A M K D V V K H R T p.660
. . . . . . g.101069
TCTATTTTCATTGCACACAGATTGTCAACAGTGGTTGATGCAGATGAAATCATTGTCTTG c.2040
S I F I A H R L S T V V D A D E I I V L p.680
| 16 . . . . . . g.107766
GATCAG | GGTAAGGTAGCCGAACGTGGTACCCACCATGGTTTGCTTGCTAACCCTCATAGT c.2100
D Q | G K V A E R G T H H G L L A N P H S p.700
. . . . . . g.107826
ATCTATTCAGAAATGTGGCATACACAGAGCAGCCGTGTGCAGAACCATGATAACCCCAAA c.2160
I Y S E M W H T Q S S R V Q N H D N P K p.720
. . . . . . g.107886
TGGGAAGCAAAGAAAGAAAATATATCCAAAGAGGAGGAAAGAAAGAAACTACAAGAAGAA c.2220
W E A K K E N I S K E E E R K K L Q E E p.740
. . . . g.107928
ATTGTCAATAGTGTGAAAGGCTGTGGAAACTGTTCGTGCTAA c.2262
I V N S V K G C G N C S C X p.753
. . . . . . g.107988
gtcacataagacattttctttttttgttgttttggactacatatttgcactgaagcagaa c.*60
. . . . . . g.108048
ttgttttattaaaaaaatcatacattcccattttctataatccttcttttagataagatt c.*120
. . . . . . g.108108
tatttaaaaggggatttgagttttacatctttcatagtctatttaatgtggcatctgtat c.*180
. g.108126
ttatccccaaattatttt c.*198
(downstream sequence)
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