(used for variant description)
(last modified July 22, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_022436.2 in the ABCG5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering ABCG5 transcript NM_022436.2.
(upstream sequence)
. . g.5020
aagtcccagtcctgctgtcc c.-121
. . . . . . g.5080
caagggactccggggtcaggtggagcaggcagggcagtctgccacgggctccccaactga c.-61
. . . . . . g.5140
agccactctggggagggtccggccaccagaaaatttgcccagctttgctgcctgttggcc c.-1
. . . . . . g.5200
ATGGGTGACCTCTCATCTTTGACCCCCGGAGGGTCCATGGGTCTCCAAGTAAACAGAGGC c.60
M G D L S S L T P G G S M G L Q V N R G p.20
. . . . . . g.5260
TCCCAGAGCTCCCTGGAGGGGGCTCCTGCCACCGCCCCGGAGCCTCACAGCCTGGGCATC c.120
S Q S S L E G A P A T A P E P H S L G I p.40
. . | 02 . . . . g.5901
CTCCATGCCTCCTACAGCGTCAG | CCACCGCGTGAGGCCCTGGTGGGACATCACATCTTGC c.180
L H A S Y S V S | H R V R P W W D I T S C p.60
. . . . . . g.5961
CGGCAGCAGTGGACCAGGCAGATCCTCAAAGATGTCTCCTTGTACGTGGAGAGCGGGCAG c.240
R Q Q W T R Q I L K D V S L Y V E S G Q p.80
. . | 03 . . . . g.11771
ATCATGTGCATCCTAGGAAGCTCAG | GCTCCGGGAAAACCACGCTGCTGGACGCCATGTCC c.300
I M C I L G S S G | S G K T T L L D A M S p.100
. . . . . . g.11831
GGGAGGCTGGGGCGCGCGGGGACCTTCCTGGGGGAGGTGTATGTGAACGGCCGGGCGCTG c.360
G R L G R A G T F L G E V Y V N G R A L p.120
. . . . | 04 . . g.11970
CGCCGGGAGCAGTTCCAGGACTGCTTCTCCTACGTCCTGCAG | AGCGACACCCTGCTGAGC c.420
R R E Q F Q D C F S Y V L Q | S D T L L S p.140
. . . . . . g.12030
AGCCTCACCGTGCGCGAGACGCTGCACTACACCGCGCTGCTGGCCATCCGCCGCGGCAAT c.480
S L T V R E T L H Y T A L L A I R R G N p.160
. . | 05 . . . . g.15743
CCCGGCTCCTTCCAGAAGAAG | GTGGAGGCCGTCATGGCAGAGCTGAGTCTGAGCCATGTG c.540
P G S F Q K K | V E A V M A E L S L S H V p.180
. . . . . . g.15803
GCAGACCGACTGATTGGCAACTACAGCTTGGGGGGCATTTCCACGGGTGAGCGGCGCCGG c.600
A D R L I G N Y S L G G I S T G E R R R p.200
. . . | 06 . . . g.17324
GTCTCCATCGCAGCCCAGCTGCTCCAGGATCCTA | AGGTCATGCTGTTTGATGAGCCAACC c.660
V S I A A Q L L Q D P K | V M L F D E P T p.220
. . . . . . g.17384
ACAGGCCTGGACTGCATGACTGCTAATCAGATTGTCGTCCTCCTGGTGGAACTGGCTCGC c.720
T G L D C M T A N Q I V V L L V E L A R p.240
. . . . . | 07 . g.18807
AGGAACCGAATTGTGGTTCTCACCATTCACCAGCCCCGTTCTGAGCTTTTTCAG | CTCTTT c.780
R N R I V V L T I H Q P R S E L F Q | L F p.260
. . . . . . g.18867
GACAAAATTGCCATCCTGAGCTTCGGAGAGCTGATTTTCTGTGGCACGCCAGCGGAAATG c.840
D K I A I L S F G E L I F C G T P A E M p.280
. . . . . . g.18927
CTTGATTTCTTCAATGACTGCGGTTACCCTTGTCCTGAACATTCAAACCCTTTTGACTTC c.900
L D F F N D C G Y P C P E H S N P F D F p.300
| 08 . . . . . . g.19443
TATA | TGGACCTGACGTCAGTGGATACCCAAAGCAAGGAACGGGAAATAGAAACCTCCAAG c.960
Y M | D L T S V D T Q S K E R E I E T S K p.320
. . . . . . g.19503
AGAGTCCAGATGATAGAATCTGCCTACAAGAAATCAGCAATTTGTCATAAAACTTTGAAG c.1020
R V Q M I E S A Y K K S A I C H K T L K p.340
. . . . . . g.19563
AATATTGAAAGAATGAAACACCTGAAAACGTTACCAATGGTTCCTTTCAAAACCAAAGAT c.1080
N I E R M K H L K T L P M V P F K T K D p.360
. . . | 09 . . g.19723
TCTCCTGGAGTTTTCTCTAAACTGGGTGTTCTCCTGAG | GAGAGTGACAAGAAACTTGGTG c.1140
S P G V F S K L G V L L R | R V T R N L V p.380
. . . . . . g.19783
AGAAATAAGCTGGCAGTGATTACGCGTCTCCTTCAGAATCTGATCATGGGTTTGTTCCTC c.1200
R N K L A V I T R L L Q N L I M G L F L p.400
. . . . . . g.19843
CTTTTCTTCGTTCTGCGGGTCCGAAGCAATGTGCTAAAGGGTGCTATCCAGGACCGCGTA c.1260
L F F V L R V R S N V L K G A I Q D R V p.420
. . . . . . g.19903
GGTCTCCTTTACCAGTTTGTGGGCGCCACCCCGTACACAGGCATGCTGAACGCTGTGAAT c.1320
G L L Y Q F V G A T P Y T G M L N A V N p.440
| 10 . . . . . . g.20940
CTGT | TTCCCGTGCTGCGAGCTGTCAGCGACCAGGAGAGTCAGGACGGCCTCTACCAGAAG c.1380
L F | P V L R A V S D Q E S Q D G L Y Q K p.460
. . . . . . g.21000
TGGCAGATGATGCTGGCCTATGCACTGCACGTCCTCCCCTTCAGCGTTGTTGCCACCATG c.1440
W Q M M L A Y A L H V L P F S V V A T M p.480
. . | 11 . . . . g.23756
ATTTTCAGCAGTGTGTGCTACTG | GACGCTGGGCTTACATCCTGAGGTTGCCCGATTTGGA c.1500
I F S S V C Y W | T L G L H P E V A R F G p.500
. . . . . . g.23816
TATTTTTCTGCTGCTCTCTTGGCCCCCCACTTAATTGGTGAATTTCTAACTCTTGTGCTA c.1560
Y F S A A L L A P H L I G E F L T L V L p.520
. . . . . . g.23876
CTTGGTATCGTCCAAAATCCAAATATAGTCAACAGTGTAGTGGCTCTGCTGTCCATTGCG c.1620
L G I V Q N P N I V N S V V A L L S I A p.540
. . | 12 . . . g.29261
GGGGTGCTTGTTGGATCTGGATTCCTCAG | AAACATACAAGAAATGCCCATTCCTTTTAAA c.1680
G V L V G S G F L R | N I Q E M P I P F K p.560
. . . . . . g.29321
ATCATCAGTTATTTTACATTCCAAAAATATTGCAGTGAGATTCTTGTAGTCAATGAGTTC c.1740
I I S Y F T F Q K Y C S E I L V V N E F p.580
. . | 13 . . . . g.30548
TACGGACTGAATTTCACTTGTG | GCAGCTCAAATGTTTCTGTGACAACTAATCCAATGTGT c.1800
Y G L N F T C G | S S N V S V T T N P M C p.600
. . . . . . g.30608
GCCTTCACTCAAGGAATTCAATTCATTGAGAAAACCTGCCCAGGTGCAACATCTAGATTC c.1860
A F T Q G I Q F I E K T C P G A T S R F p.620
. . . . . . g.30668
ACAATGAACTTTCTGATTTTGTATTCATTTATTCCAGCTCTTGTCATCCTAGGAATAGTT c.1920
T M N F L I L Y S F I P A L V I L G I V p.640
. . . g.30704
GTTTTCAAAATAAGGGATCATCTCATTAGCAGGTAG c.1956
V F K I R D H L I S R X p.651
. . . . . . g.30764
tgaaagccatggctgggaaaatggaagtgaagctgccgactgtgcatgactgctctgaac c.*60
. . . . . . g.30824
gtctgaaatgagagtgccatgtatttctttcttgacaggacatctcaagtcttttaacca c.*120
. . . . . . g.30884
ttaagactccatttgtgcctcttggatccaagcaggccttgaatgcaatggaagtggttt c.*180
. . . . . . g.30944
atagtcccttgctcttacaacttgcagggacatgtggttatttggaaattgtgactgagc c.*240
. . . . . . g.31004
ggacccaagaatgtaaataatattcataaacctatgggagactcgtgtgactattttttt c.*300
. . . . . . g.31064
tccttgttctaggcacagaaaaaaataggtcagcttaaaaatatgtttacattggataaa c.*360
. . . . . . g.31124
ggattaggcaaaaataaaatgtttcaaggattcctgaccataagtgacagagaaagagag c.*420
. . . . . . g.31184
ttgtgggtttagatgaagcaaggttatcatgcagaattgggtaagaatgcttctgttcct c.*480
. . . . . . g.31244
ggaagacccagagttaaatgcagatgtccacacgaggggtcggagttacctgatcacatc c.*540
. . . . . . g.31304
gagagagtgctgggcagatggatggtgagcaccactgctacagagcacccagtgatttta c.*600
. . . . g.31348
ctgaggattaaaataaaaaaccgtaggaatgggctcaacagtga c.*644
(downstream sequence)
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