Canonical Allele Identifier: CA2683600311

Gene: ABCB4

Linked Data

• gnomAD v4: 7-87439544-CAGCTCCATGAGGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87439553_87439565del , CM000669.2:g.87439553_87439565del	GRCh38
NC_000007.13:g.87068869_87068881del , CM000669.1:g.87068869_87068881del	GRCh37
NC_000007.12:g.86906805_86906817del	NCBI36
NG_007118.1:g.45876_45888del
NG_007118.2:g.45876_45888del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.1731+110_1731+122del	ENSP00000352135.3:n.1731+110_1731+122del
ENST00000643670.1:c.1747+110_1747+122del	ENSP00000496629.1:n.1747+110_1747+122del
ENST00000644106.1:c.*1268+110_*1268+122del	ENSP00000493477.1:n.*1268+110_*1268+122del
ENST00000649586.2:c.1731+110_1731+122del MANE Select	ENSP00000496956.2:n.1731+110_1731+122del
ENST00000265723.8:c.1731+110_1731+122del	ENSP00000265723.4:n.1731+110_1731+122del
ENST00000358400.7:c.1731+110_1731+122del	ENSP00000351172.3:n.1731+110_1731+122del
ENST00000359206.7:c.1731+110_1731+122del	ENSP00000352135.3:n.1731+110_1731+122del
ENST00000453593.5:c.1731+110_1731+122del	ENSP00000392983.1:n.1731+110_1731+122del
NM_000443.3:c.1731+110_1731+122del	NP_000434.1:n.1731+110_1731+122del
NM_018849.2:c.1731+110_1731+122del	NP_061337.1:n.1731+110_1731+122del
NM_018850.2:c.1731+110_1731+122del	NP_061338.1:n.1731+110_1731+122del
XM_011516308.1:c.1731+110_1731+122del	XP_011514610.1:n.1731+110_1731+122del
XM_011516309.1:c.1731+110_1731+122del	XP_011514611.1:n.1731+110_1731+122del
XM_011516310.1:c.1731+110_1731+122del	XP_011514612.1:n.1731+110_1731+122del
XM_011516311.1:c.1731+110_1731+122del	XP_011514613.1:n.1731+110_1731+122del
XM_011516312.1:c.1731+110_1731+122del	XP_011514614.1:n.1731+110_1731+122del
XM_011516313.1:c.1731+110_1731+122del	XP_011514615.1:n.1731+110_1731+122del
XM_011516314.1:c.1752+110_1752+122del	XP_011514616.1:n.1752+110_1752+122del
XM_011516315.1:c.1071+110_1071+122del	XP_011514617.1:n.1071+110_1071+122del
XR_927478.1:n.1827+110_1827+122del
XM_011516308.3:c.2001+110_2001+122del	XP_011514610.3:n.2001+110_2001+122del
XM_011516309.3:c.2001+110_2001+122del	XP_011514611.3:n.2001+110_2001+122del
XM_011516310.3:c.2001+110_2001+122del	XP_011514612.3:n.2001+110_2001+122del
XM_011516311.3:c.2001+110_2001+122del	XP_011514613.3:n.2001+110_2001+122del
XM_011516312.3:c.2001+110_2001+122del	XP_011514614.3:n.2001+110_2001+122del
XM_011516313.3:c.2001+110_2001+122del	XP_011514615.2:n.2001+110_2001+122del
XM_011516315.3:c.1071+110_1071+122del	XP_011514617.2:n.1071+110_1071+122del
XM_017012323.2:c.1731+110_1731+122del	XP_016867812.1:n.1731+110_1731+122del
XR_001744809.2:n.2502+110_2502+122del
XR_001744810.2:n.2497+110_2497+122del
NM_000443.4:c.1731+110_1731+122del MANE Select	NP_000434.1:n.1731+110_1731+122del
NM_018849.3:c.1731+110_1731+122del	NP_061337.1:n.1731+110_1731+122del
NM_018850.3:c.1731+110_1731+122del	NP_061338.1:n.1731+110_1731+122del