Canonical Allele Identifier: CA913189578

Gene: ABCB4

Linked Data

• ClinVar Variation Id: 594748
• ClinVar RCV Id: RCV000730110
• dbSNP Id: rs1562963055

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87424031_87424037del , CM000669.2:g.87424031_87424037del	GRCh38
NC_000007.13:g.87053347_87053353del , CM000669.1:g.87053347_87053353del	GRCh37
NC_000007.12:g.86891283_86891289del	NCBI36
NG_007118.1:g.61398_61404del
NG_007118.2:g.61398_61404del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.2082_2088del	ENSP00000352135.3:p.Val695PhefsTer2
ENST00000643670.1:c.2098_2104del	ENSP00000496629.1:n.2098_2104del
ENST00000649586.2:c.2082_2088del MANE Select	ENSP00000496956.2:p.Val695PhefsTer2
ENST00000265723.8:c.2082_2088del	ENSP00000265723.4:p.Val695PhefsTer2
ENST00000358400.7:c.2082_2088del	ENSP00000351172.3:p.Val695PhefsTer2
ENST00000359206.7:c.2082_2088del	ENSP00000352135.3:p.Val695PhefsTer2
ENST00000453593.5:c.2082_2088del	ENSP00000392983.1:p.Val695PhefsTer2
ENST00000469770.1:n.286_292del
NM_000443.3:c.2082_2088del	NP_000434.1:p.Val695PhefsTer2
NM_018849.2:c.2082_2088del	NP_061337.1:p.Val695PhefsTer2
NM_018850.2:c.2082_2088del	NP_061338.1:p.Val695PhefsTer2
XM_011516308.1:c.2082_2088del	XP_011514610.1:p.Val695PhefsTer2
XM_011516309.1:c.2082_2088del	XP_011514611.1:p.Val695PhefsTer2
XM_011516310.1:c.2082_2088del	XP_011514612.1:p.Val695PhefsTer2
XM_011516311.1:c.2082_2088del	XP_011514613.1:p.Val695PhefsTer2
XM_011516312.1:c.2082_2088del	XP_011514614.1:p.Val695PhefsTer2
XM_011516313.1:c.2082_2088del	XP_011514615.1:p.Val695PhefsTer2
XM_011516314.1:c.2103_2109del	XP_011514616.1:p.Val702PhefsTer2
XM_011516315.1:c.1422_1428del	XP_011514617.1:p.Val475PhefsTer2
XR_927478.1:n.2178_2184del
XM_011516308.3:c.2352_2358del	XP_011514610.3:p.Val785PhefsTer2
XM_011516309.3:c.2352_2358del	XP_011514611.3:p.Val785PhefsTer2
XM_011516310.3:c.2352_2358del	XP_011514612.3:p.Val785PhefsTer2
XM_011516311.3:c.2352_2358del	XP_011514613.3:p.Val785PhefsTer2
XM_011516312.3:c.2352_2358del	XP_011514614.3:p.Val785PhefsTer2
XM_011516313.3:c.2352_2358del	XP_011514615.2:p.Val785PhefsTer2
XM_011516315.3:c.1422_1428del	XP_011514617.2:p.Val475PhefsTer2
XM_017012323.2:c.2082_2088del	XP_016867812.1:p.Val695PhefsTer2
XR_001744809.2:n.2853_2859del
XR_001744810.2:n.2848_2854del
NM_000443.4:c.2082_2088del MANE Select	NP_000434.1:p.Val695PhefsTer2
NM_018849.3:c.2082_2088del	NP_061337.1:p.Val695PhefsTer2
NM_018850.3:c.2082_2088del	NP_061338.1:p.Val695PhefsTer2