Canonical Allele Identifier: CA2683600209

Gene: ABCB4

Linked Data

• gnomAD v4: 7-87423843-GGGAGAAGCAGCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87423845_87423856del , CM000669.2:g.87423845_87423856del	GRCh38
NC_000007.13:g.87053161_87053172del , CM000669.1:g.87053161_87053172del	GRCh37
NC_000007.12:g.86891097_86891108del	NCBI36
NG_007118.1:g.61578_61589del
NG_007118.2:g.61578_61589del

Transcript Alleles

HGVS	Amino-acid change
ENST00000359206.8:c.2211+51_2211+62del	ENSP00000352135.3:n.2211+51_2211+62del
ENST00000649586.2:c.2211+51_2211+62del MANE Select	ENSP00000496956.2:n.2211+51_2211+62del
ENST00000265723.8:c.2211+51_2211+62del	ENSP00000265723.4:n.2211+51_2211+62del
ENST00000358400.7:c.2211+51_2211+62del	ENSP00000351172.3:n.2211+51_2211+62del
ENST00000359206.7:c.2211+51_2211+62del	ENSP00000352135.3:n.2211+51_2211+62del
ENST00000453593.5:c.2211+51_2211+62del	ENSP00000392983.1:n.2211+51_2211+62del
ENST00000469770.1:n.466_477del
NM_000443.3:c.2211+51_2211+62del	NP_000434.1:n.2211+51_2211+62del
NM_018849.2:c.2211+51_2211+62del	NP_061337.1:n.2211+51_2211+62del
NM_018850.2:c.2211+51_2211+62del	NP_061338.1:n.2211+51_2211+62del
XM_011516308.1:c.2211+51_2211+62del	XP_011514610.1:n.2211+51_2211+62del
XM_011516309.1:c.2211+51_2211+62del	XP_011514611.1:n.2211+51_2211+62del
XM_011516310.1:c.2211+51_2211+62del	XP_011514612.1:n.2211+51_2211+62del
XM_011516311.1:c.2211+51_2211+62del	XP_011514613.1:n.2211+51_2211+62del
XM_011516312.1:c.2211+51_2211+62del	XP_011514614.1:n.2211+51_2211+62del
XM_011516313.1:c.2211+51_2211+62del	XP_011514615.1:n.2211+51_2211+62del
XM_011516314.1:c.2232+51_2232+62del	XP_011514616.1:n.2232+51_2232+62del
XM_011516315.1:c.1551+51_1551+62del	XP_011514617.1:n.1551+51_1551+62del
XR_927478.1:n.2307+51_2307+62del
XM_011516308.3:c.2481+51_2481+62del	XP_011514610.3:n.2481+51_2481+62del
XM_011516309.3:c.2481+51_2481+62del	XP_011514611.3:n.2481+51_2481+62del
XM_011516310.3:c.2481+51_2481+62del	XP_011514612.3:n.2481+51_2481+62del
XM_011516311.3:c.2481+51_2481+62del	XP_011514613.3:n.2481+51_2481+62del
XM_011516312.3:c.2481+51_2481+62del	XP_011514614.3:n.2481+51_2481+62del
XM_011516313.3:c.2481+51_2481+62del	XP_011514615.2:n.2481+51_2481+62del
XM_011516315.3:c.1551+51_1551+62del	XP_011514617.2:n.1551+51_1551+62del
XM_017012323.2:c.2211+51_2211+62del	XP_016867812.1:n.2211+51_2211+62del
XR_001744809.2:n.2982+51_2982+62del
XR_001744810.2:n.2977+51_2977+62del
NM_000443.4:c.2211+51_2211+62del MANE Select	NP_000434.1:n.2211+51_2211+62del
NM_018849.3:c.2211+51_2211+62del	NP_061337.1:n.2211+51_2211+62del
NM_018850.3:c.2211+51_2211+62del	NP_061338.1:n.2211+51_2211+62del