Canonical Allele Identifier: CA1723571357

Gene: ABCB4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87446902_87446906delinsGGAAA , CM000669.2:g.87446902_87446906delinsGGAAA	GRCh38
NC_000007.13:g.87076218_87076222delinsGGAAA , CM000669.1:g.87076218_87076222delinsGGAAA	GRCh37
NC_000007.12:g.86914154_86914158delinsGGAAA	NCBI36
NG_007118.1:g.38527_38531delinsTTTCC
NG_007118.2:g.38527_38531delinsTTTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.1005+128_1005+132delinsTTTCC	ENSP00000352135.3:n.1005+128_1005+132delinsTTTCC
ENST00000643670.1:c.1021+128_1021+132delinsTTTCC	ENSP00000496629.1:n.1021+128_1021+132delinsTTTCC
ENST00000644106.1:c.*542+128_*542+132delinsTTTCC	ENSP00000493477.1:n.*542+128_*542+132delinsTTTCC
ENST00000649586.2:c.1005+128_1005+132delinsTTTCC MANE Select	ENSP00000496956.2:n.1005+128_1005+132delinsTTTCC
ENST00000265723.8:c.1005+128_1005+132delinsTTTCC	ENSP00000265723.4:n.1005+128_1005+132delinsTTTCC
ENST00000358400.7:c.1005+128_1005+132delinsTTTCC	ENSP00000351172.3:n.1005+128_1005+132delinsTTTCC
ENST00000359206.7:c.1005+128_1005+132delinsTTTCC	ENSP00000352135.3:n.1005+128_1005+132delinsTTTCC
ENST00000453593.5:c.1005+128_1005+132delinsTTTCC	ENSP00000392983.1:n.1005+128_1005+132delinsTTTCC
NM_000443.3:c.1005+128_1005+132delinsTTTCC	NP_000434.1:n.1005+128_1005+132delinsTTTCC
NM_018849.2:c.1005+128_1005+132delinsTTTCC	NP_061337.1:n.1005+128_1005+132delinsTTTCC
NM_018850.2:c.1005+128_1005+132delinsTTTCC	NP_061338.1:n.1005+128_1005+132delinsTTTCC
XM_011516308.1:c.1005+128_1005+132delinsTTTCC	XP_011514610.1:n.1005+128_1005+132delinsTTTCC
XM_011516309.1:c.1005+128_1005+132delinsTTTCC	XP_011514611.1:n.1005+128_1005+132delinsTTTCC
XM_011516310.1:c.1005+128_1005+132delinsTTTCC	XP_011514612.1:n.1005+128_1005+132delinsTTTCC
XM_011516311.1:c.1005+128_1005+132delinsTTTCC	XP_011514613.1:n.1005+128_1005+132delinsTTTCC
XM_011516312.1:c.1005+128_1005+132delinsTTTCC	XP_011514614.1:n.1005+128_1005+132delinsTTTCC
XM_011516313.1:c.1005+128_1005+132delinsTTTCC	XP_011514615.1:n.1005+128_1005+132delinsTTTCC
XM_011516314.1:c.1026+128_1026+132delinsTTTCC	XP_011514616.1:n.1026+128_1026+132delinsTTTCC
XM_011516315.1:c.345+128_345+132delinsTTTCC	XP_011514617.1:n.345+128_345+132delinsTTTCC
XR_927478.1:n.1101+128_1101+132delinsTTTCC
XM_011516308.3:c.1275+128_1275+132delinsTTTCC	XP_011514610.3:n.1275+128_1275+132delinsTTTCC
XM_011516309.3:c.1275+128_1275+132delinsTTTCC	XP_011514611.3:n.1275+128_1275+132delinsTTTCC
XM_011516310.3:c.1275+128_1275+132delinsTTTCC	XP_011514612.3:n.1275+128_1275+132delinsTTTCC
XM_011516311.3:c.1275+128_1275+132delinsTTTCC	XP_011514613.3:n.1275+128_1275+132delinsTTTCC
XM_011516312.3:c.1275+128_1275+132delinsTTTCC	XP_011514614.3:n.1275+128_1275+132delinsTTTCC
XM_011516313.3:c.1275+128_1275+132delinsTTTCC	XP_011514615.2:n.1275+128_1275+132delinsTTTCC
XM_011516315.3:c.345+128_345+132delinsTTTCC	XP_011514617.2:n.345+128_345+132delinsTTTCC
XM_017012323.2:c.1005+128_1005+132delinsTTTCC	XP_016867812.1:n.1005+128_1005+132delinsTTTCC
XR_001744809.2:n.1776+128_1776+132delinsTTTCC
XR_001744810.2:n.1771+128_1771+132delinsTTTCC
NM_000443.4:c.1005+128_1005+132delinsTTTCC MANE Select	NP_000434.1:n.1005+128_1005+132delinsTTTCC
NM_018849.3:c.1005+128_1005+132delinsTTTCC	NP_061337.1:n.1005+128_1005+132delinsTTTCC
NM_018850.3:c.1005+128_1005+132delinsTTTCC	NP_061338.1:n.1005+128_1005+132delinsTTTCC