Canonical Allele Identifier: CA1723579218

Gene: ABCB4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87417207_87417211delinsCACAA , CM000669.2:g.87417207_87417211delinsCACAA	GRCh38
NC_000007.13:g.87046523_87046527delinsCACAA , CM000669.1:g.87046523_87046527delinsCACAA	GRCh37
NC_000007.12:g.86884459_86884463delinsCACAA	NCBI36
NG_007118.1:g.68222_68226delinsTTGTG
NG_007118.2:g.68222_68226delinsTTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.2682+101_2682+105delinsTTGTG	ENSP00000352135.3:n.2682+101_2682+105delinsTTGTG
ENST00000649586.2:c.2682+101_2682+105delinsTTGTG MANE Select	ENSP00000496956.2:n.2682+101_2682+105delinsTTGTG
ENST00000265723.8:c.2682+101_2682+105delinsTTGTG	ENSP00000265723.4:n.2682+101_2682+105delinsTTGTG
ENST00000358400.7:c.2682+101_2682+105delinsTTGTG	ENSP00000351172.3:n.2682+101_2682+105delinsTTGTG
ENST00000359206.7:c.2682+101_2682+105delinsTTGTG	ENSP00000352135.3:n.2682+101_2682+105delinsTTGTG
ENST00000453593.5:c.2682+101_2682+105delinsTTGTG	ENSP00000392983.1:n.2682+101_2682+105delinsTTGTG
NM_000443.3:c.2682+101_2682+105delinsTTGTG	NP_000434.1:n.2682+101_2682+105delinsTTGTG
NM_018849.2:c.2682+101_2682+105delinsTTGTG	NP_061337.1:n.2682+101_2682+105delinsTTGTG
NM_018850.2:c.2682+101_2682+105delinsTTGTG	NP_061338.1:n.2682+101_2682+105delinsTTGTG
XM_011516308.1:c.2682+101_2682+105delinsTTGTG	XP_011514610.1:n.2682+101_2682+105delinsTTGTG
XM_011516309.1:c.2682+101_2682+105delinsTTGTG	XP_011514611.1:n.2682+101_2682+105delinsTTGTG
XM_011516310.1:c.2577+101_2577+105delinsTTGTG	XP_011514612.1:n.2577+101_2577+105delinsTTGTG
XM_011516311.1:c.2682+101_2682+105delinsTTGTG	XP_011514613.1:n.2682+101_2682+105delinsTTGTG
XM_011516312.1:c.2682+101_2682+105delinsTTGTG	XP_011514614.1:n.2682+101_2682+105delinsTTGTG
XM_011516313.1:c.2682+101_2682+105delinsTTGTG	XP_011514615.1:n.2682+101_2682+105delinsTTGTG
XM_011516314.1:c.2703+101_2703+105delinsTTGTG	XP_011514616.1:n.2703+101_2703+105delinsTTGTG
XM_011516315.1:c.2022+101_2022+105delinsTTGTG	XP_011514617.1:n.2022+101_2022+105delinsTTGTG
XR_927478.1:n.2778+101_2778+105delinsTTGTG
XM_011516308.3:c.2952+101_2952+105delinsTTGTG	XP_011514610.3:n.2952+101_2952+105delinsTTGTG
XM_011516309.3:c.2952+101_2952+105delinsTTGTG	XP_011514611.3:n.2952+101_2952+105delinsTTGTG
XM_011516310.3:c.2847+101_2847+105delinsTTGTG	XP_011514612.3:n.2847+101_2847+105delinsTTGTG
XM_011516311.3:c.2952+101_2952+105delinsTTGTG	XP_011514613.3:n.2952+101_2952+105delinsTTGTG
XM_011516312.3:c.2952+101_2952+105delinsTTGTG	XP_011514614.3:n.2952+101_2952+105delinsTTGTG
XM_011516313.3:c.2952+101_2952+105delinsTTGTG	XP_011514615.2:n.2952+101_2952+105delinsTTGTG
XM_011516315.3:c.2022+101_2022+105delinsTTGTG	XP_011514617.2:n.2022+101_2022+105delinsTTGTG
XM_017012323.2:c.2682+101_2682+105delinsTTGTG	XP_016867812.1:n.2682+101_2682+105delinsTTGTG
XR_001744809.2:n.3453+101_3453+105delinsTTGTG
NM_000443.4:c.2682+101_2682+105delinsTTGTG MANE Select	NP_000434.1:n.2682+101_2682+105delinsTTGTG
NM_018849.3:c.2682+101_2682+105delinsTTGTG	NP_061337.1:n.2682+101_2682+105delinsTTGTG
NM_018850.3:c.2682+101_2682+105delinsTTGTG	NP_061338.1:n.2682+101_2682+105delinsTTGTG