Canonical Allele Identifier: CA2683602424

Gene: ABCB4

Linked Data

• gnomAD v4: 7-87452980-ATG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87452982_87452983del , CM000669.2:g.87452982_87452983del	GRCh38
NC_000007.13:g.87082298_87082299del , CM000669.1:g.87082298_87082299del	GRCh37
NC_000007.12:g.86920234_86920235del	NCBI36
NG_007118.1:g.32451_32452del
NG_007118.2:g.32451_32452del

Transcript Alleles

HGVS	Amino-acid change
ENST00000359206.8:c.498_499del	ENSP00000352135.3:p.Ile167GlnfsTer5
ENST00000643670.1:c.441_442del	ENSP00000496629.1:p.Ile148GlnfsTer5
ENST00000644106.1:c.498_499del	ENSP00000493477.1:p.Ile167GlnfsTer5
ENST00000649586.2:c.498_499del MANE Select	ENSP00000496956.2:p.Ile167GlnfsTer5
ENST00000265723.8:c.498_499del	ENSP00000265723.4:p.Ile167GlnfsTer5
ENST00000358400.7:c.498_499del	ENSP00000351172.3:p.Ile167GlnfsTer5
ENST00000359206.7:c.498_499del	ENSP00000352135.3:p.Ile167GlnfsTer5
ENST00000453593.5:c.498_499del	ENSP00000392983.1:p.Ile167GlnfsTer5
ENST00000473795.1:n.505_506del
NM_000443.3:c.498_499del	NP_000434.1:p.Ile167GlnfsTer5
NM_018849.2:c.498_499del	NP_061337.1:p.Ile167GlnfsTer5
NM_018850.2:c.498_499del	NP_061338.1:p.Ile167GlnfsTer5
XM_011516308.1:c.498_499del	XP_011514610.1:p.Ile167GlnfsTer5
XM_011516309.1:c.498_499del	XP_011514611.1:p.Ile167GlnfsTer5
XM_011516310.1:c.498_499del	XP_011514612.1:p.Ile167GlnfsTer5
XM_011516311.1:c.498_499del	XP_011514613.1:p.Ile167GlnfsTer5
XM_011516312.1:c.498_499del	XP_011514614.1:p.Ile167GlnfsTer5
XM_011516313.1:c.498_499del	XP_011514615.1:p.Ile167GlnfsTer5
XM_011516314.1:c.519_520del	XP_011514616.1:p.Ile174GlnfsTer5
XM_011516315.1:c.-86_-85del	XP_011514617.1:n.-86_-85del
XR_927478.1:n.594_595del
XM_011516308.3:c.768_769del	XP_011514610.3:p.Ile257GlnfsTer5
XM_011516309.3:c.768_769del	XP_011514611.3:p.Ile257GlnfsTer5
XM_011516310.3:c.768_769del	XP_011514612.3:p.Ile257GlnfsTer5
XM_011516311.3:c.768_769del	XP_011514613.3:p.Ile257GlnfsTer5
XM_011516312.3:c.768_769del	XP_011514614.3:p.Ile257GlnfsTer5
XM_011516313.3:c.768_769del	XP_011514615.2:p.Ile257GlnfsTer5
XM_011516315.3:c.-86_-85del	XP_011514617.2:n.-86_-85del
XM_017012323.2:c.498_499del	XP_016867812.1:p.Ile167GlnfsTer5
XR_001744809.2:n.1269_1270del
XR_001744810.2:n.1264_1265del
NM_000443.4:c.498_499del MANE Select	NP_000434.1:p.Ile167GlnfsTer5
NM_018849.3:c.498_499del	NP_061337.1:p.Ile167GlnfsTer5
NM_018850.3:c.498_499del	NP_061338.1:p.Ile167GlnfsTer5