Canonical Allele Identifier: CA123365
Gene: ABCB4 HGNC NCBI

Linked Data

ClinVar Variation Id: 13694
ClinVar RCV Id: RCV000014693
dbSNP Id: rs387906529

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87423953dup , CM000669.2:g.87423953dup GRCh38
NC_000007.13:g.87053269dup , CM000669.1:g.87053269dup GRCh37
NC_000007.12:g.86891205dup NCBI36
NG_007118.1:g.61485dup
NG_007118.2:g.61485dup

Transcript Alleles

HGVS Amino-acid change
ENST00000359206.8:c.2169dup ENSP00000352135.3:p.Leu724AlafsTer21
ENST00000643670.1:n.2185dup ENSP00000496629.1:p.=
ENST00000649586.2:c.2169dup MANE Select ENSP00000496956.2:p.Leu724AlafsTer21
ENST00000265723.8:c.2169dup ENSP00000265723.4:p.Leu724AlafsTer21
ENST00000358400.7:c.2169dup ENSP00000351172.3:p.Leu724AlafsTer21
ENST00000359206.7:c.2169dup ENSP00000352135.3:p.Leu724AlafsTer21
ENST00000453593.5:n.2169dup ENSP00000392983.1:p.Leu724AlafsTer21
ENST00000469770.1:n.373dup
NM_000443.3:c.2169dup NP_000434.1:p.Leu724AlafsTer21
NM_018849.2:c.2169dup NP_061337.1:p.Leu724AlafsTer21
NM_018850.2:c.2169dup NP_061338.1:p.Leu724AlafsTer21
XM_011516308.1:c.2169dup XP_011514610.1:p.Leu724AlafsTer21
XM_011516309.1:c.2169dup XP_011514611.1:p.Leu724AlafsTer21
XM_011516310.1:c.2169dup XP_011514612.1:p.Leu724AlafsTer?
XM_011516311.1:c.2169dup XP_011514613.1:p.Leu724AlafsTer21
XM_011516312.1:c.2169dup XP_011514614.1:p.Leu724AlafsTer21
XM_011516313.1:c.2169dup XP_011514615.1:p.Leu724AlafsTer21
XM_011516314.1:c.2190dup XP_011514616.1:p.Leu731AlafsTer21
XM_011516315.1:c.1509dup XP_011514617.1:p.Leu504AlafsTer21
XR_927478.1:n.2265dup
XM_011516308.3:c.2439dup XP_011514610.3:p.Leu814AlafsTer21
XM_011516309.3:c.2439dup XP_011514611.3:p.Leu814AlafsTer21
XM_011516310.3:c.2439dup XP_011514612.3:p.Leu814AlafsTer?
XM_011516311.3:c.2439dup XP_011514613.3:p.Leu814AlafsTer21
XM_011516312.3:c.2439dup XP_011514614.3:p.Leu814AlafsTer21
XM_011516313.3:c.2439dup XP_011514615.2:p.Leu814AlafsTer21
XM_011516315.3:c.1509dup XP_011514617.2:p.Leu504AlafsTer21
XM_017012323.2:c.2169dup XP_016867812.1:p.Leu724AlafsTer21
XR_001744809.2:n.2940dup
XR_001744810.2:n.2935dup
NM_000443.4:c.2169dup MANE Select NP_000434.1:p.Leu724AlafsTer21
NM_018849.3:c.2169dup NP_061337.1:p.Leu724AlafsTer21
NM_018850.3:c.2169dup NP_061338.1:p.Leu724AlafsTer21