Canonical Allele Identifier: CA1723587447

Gene: ABCB4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87424032_87424033delinsCA , CM000669.2:g.87424032_87424033delinsCA	GRCh38
NC_000007.13:g.87053348_87053349delinsCA , CM000669.1:g.87053348_87053349delinsCA	GRCh37
NC_000007.12:g.86891284_86891285delinsCA	NCBI36
NG_007118.1:g.61400_61401delinsTG
NG_007118.2:g.61400_61401delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.2084_2085delinsTG	ENSP00000352135.3:p.Val695=
ENST00000643670.1:c.2100_2101delinsTG	ENSP00000496629.1:n.2100_2101delinsTG
ENST00000649586.2:c.2084_2085delinsTG MANE Select	ENSP00000496956.2:p.Val695=
ENST00000265723.8:c.2084_2085delinsTG	ENSP00000265723.4:p.Val695=
ENST00000358400.7:c.2084_2085delinsTG	ENSP00000351172.3:p.Val695=
ENST00000359206.7:c.2084_2085delinsTG	ENSP00000352135.3:p.Val695=
ENST00000453593.5:c.2084_2085delinsTG	ENSP00000392983.1:p.Val695=
ENST00000469770.1:n.288_289delinsTG
NM_000443.3:c.2084_2085delinsTG	NP_000434.1:p.Val695=
NM_018849.2:c.2084_2085delinsTG	NP_061337.1:p.Val695=
NM_018850.2:c.2084_2085delinsTG	NP_061338.1:p.Val695=
XM_011516308.1:c.2084_2085delinsTG	XP_011514610.1:p.Val695=
XM_011516309.1:c.2084_2085delinsTG	XP_011514611.1:p.Val695=
XM_011516310.1:c.2084_2085delinsTG	XP_011514612.1:p.Val695=
XM_011516311.1:c.2084_2085delinsTG	XP_011514613.1:p.Val695=
XM_011516312.1:c.2084_2085delinsTG	XP_011514614.1:p.Val695=
XM_011516313.1:c.2084_2085delinsTG	XP_011514615.1:p.Val695=
XM_011516314.1:c.2105_2106delinsTG	XP_011514616.1:p.Val702=
XM_011516315.1:c.1424_1425delinsTG	XP_011514617.1:p.Val475=
XR_927478.1:n.2180_2181delinsTG
XM_011516308.3:c.2354_2355delinsTG	XP_011514610.3:p.Val785=
XM_011516309.3:c.2354_2355delinsTG	XP_011514611.3:p.Val785=
XM_011516310.3:c.2354_2355delinsTG	XP_011514612.3:p.Val785=
XM_011516311.3:c.2354_2355delinsTG	XP_011514613.3:p.Val785=
XM_011516312.3:c.2354_2355delinsTG	XP_011514614.3:p.Val785=
XM_011516313.3:c.2354_2355delinsTG	XP_011514615.2:p.Val785=
XM_011516315.3:c.1424_1425delinsTG	XP_011514617.2:p.Val475=
XM_017012323.2:c.2084_2085delinsTG	XP_016867812.1:p.Val695=
XR_001744809.2:n.2855_2856delinsTG
XR_001744810.2:n.2850_2851delinsTG
NM_000443.4:c.2084_2085delinsTG MANE Select	NP_000434.1:p.Val695=
NM_018849.3:c.2084_2085delinsTG	NP_061337.1:p.Val695=
NM_018850.3:c.2084_2085delinsTG	NP_061338.1:p.Val695=