Canonical Allele Identifier: CA2683599360

Gene: ABCB4

Linked Data

• gnomAD v4: 7-87417649-C-CCACAACACCTGTGCTTAACT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87417652_87417671dup , CM000669.2:g.87417652_87417671dup	GRCh38
NC_000007.13:g.87046968_87046987dup , CM000669.1:g.87046968_87046987dup	GRCh37
NC_000007.12:g.86884904_86884923dup	NCBI36
NG_007118.1:g.67764_67783dup
NG_007118.2:g.67764_67783dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.2479-154_2479-135dup	ENSP00000352135.3:n.2479-154_2479-135dup
ENST00000649586.2:c.2479-154_2479-135dup MANE Select	ENSP00000496956.2:n.2479-154_2479-135dup
ENST00000265723.8:c.2479-154_2479-135dup	ENSP00000265723.4:n.2479-154_2479-135dup
ENST00000358400.7:c.2479-154_2479-135dup	ENSP00000351172.3:n.2479-154_2479-135dup
ENST00000359206.7:c.2479-154_2479-135dup	ENSP00000352135.3:n.2479-154_2479-135dup
ENST00000453593.5:c.2479-154_2479-135dup	ENSP00000392983.1:n.2479-154_2479-135dup
NM_000443.3:c.2479-154_2479-135dup	NP_000434.1:n.2479-154_2479-135dup
NM_018849.2:c.2479-154_2479-135dup	NP_061337.1:n.2479-154_2479-135dup
NM_018850.2:c.2479-154_2479-135dup	NP_061338.1:n.2479-154_2479-135dup
XM_011516308.1:c.2479-154_2479-135dup	XP_011514610.1:n.2479-154_2479-135dup
XM_011516309.1:c.2479-154_2479-135dup	XP_011514611.1:n.2479-154_2479-135dup
XM_011516310.1:c.2374-154_2374-135dup	XP_011514612.1:n.2374-154_2374-135dup
XM_011516311.1:c.2479-154_2479-135dup	XP_011514613.1:n.2479-154_2479-135dup
XM_011516312.1:c.2479-154_2479-135dup	XP_011514614.1:n.2479-154_2479-135dup
XM_011516313.1:c.2479-154_2479-135dup	XP_011514615.1:n.2479-154_2479-135dup
XM_011516314.1:c.2500-154_2500-135dup	XP_011514616.1:n.2500-154_2500-135dup
XM_011516315.1:c.1819-154_1819-135dup	XP_011514617.1:n.1819-154_1819-135dup
XR_927478.1:n.2575-154_2575-135dup
XM_011516308.3:c.2749-154_2749-135dup	XP_011514610.3:n.2749-154_2749-135dup
XM_011516309.3:c.2749-154_2749-135dup	XP_011514611.3:n.2749-154_2749-135dup
XM_011516310.3:c.2644-154_2644-135dup	XP_011514612.3:n.2644-154_2644-135dup
XM_011516311.3:c.2749-154_2749-135dup	XP_011514613.3:n.2749-154_2749-135dup
XM_011516312.3:c.2749-154_2749-135dup	XP_011514614.3:n.2749-154_2749-135dup
XM_011516313.3:c.2749-154_2749-135dup	XP_011514615.2:n.2749-154_2749-135dup
XM_011516315.3:c.1819-154_1819-135dup	XP_011514617.2:n.1819-154_1819-135dup
XM_017012323.2:c.2479-154_2479-135dup	XP_016867812.1:n.2479-154_2479-135dup
XR_001744809.2:n.3250-154_3250-135dup
NM_000443.4:c.2479-154_2479-135dup MANE Select	NP_000434.1:n.2479-154_2479-135dup
NM_018849.3:c.2479-154_2479-135dup	NP_061337.1:n.2479-154_2479-135dup
NM_018850.3:c.2479-154_2479-135dup	NP_061338.1:n.2479-154_2479-135dup