Canonical Allele Identifier: CA1723596311

Gene: ABCB4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87439685_87439686delinsTA , CM000669.2:g.87439685_87439686delinsTA	GRCh38
NC_000007.13:g.87069001_87069002delinsTA , CM000669.1:g.87069001_87069002delinsTA	GRCh37
NC_000007.12:g.86906937_86906938delinsTA	NCBI36
NG_007118.1:g.45747_45748delinsTA
NG_007118.2:g.45747_45748delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.1712_1713delinsTA	ENSP00000352135.3:p.Val571=
ENST00000643670.1:c.1728_1729delinsTA	ENSP00000496629.1:n.1728_1729delinsTA
ENST00000644106.1:c.*1249_*1250delinsTA	ENSP00000493477.1:n.*1249_*1250delinsTA
ENST00000649586.2:c.1712_1713delinsTA MANE Select	ENSP00000496956.2:p.Val571=
ENST00000265723.8:c.1712_1713delinsTA	ENSP00000265723.4:p.Val571=
ENST00000358400.7:c.1712_1713delinsTA	ENSP00000351172.3:p.Val571=
ENST00000359206.7:c.1712_1713delinsTA	ENSP00000352135.3:p.Val571=
ENST00000453593.5:c.1712_1713delinsTA	ENSP00000392983.1:p.Val571=
NM_000443.3:c.1712_1713delinsTA	NP_000434.1:p.Val571=
NM_018849.2:c.1712_1713delinsTA	NP_061337.1:p.Val571=
NM_018850.2:c.1712_1713delinsTA	NP_061338.1:p.Val571=
XM_011516308.1:c.1712_1713delinsTA	XP_011514610.1:p.Val571=
XM_011516309.1:c.1712_1713delinsTA	XP_011514611.1:p.Val571=
XM_011516310.1:c.1712_1713delinsTA	XP_011514612.1:p.Val571=
XM_011516311.1:c.1712_1713delinsTA	XP_011514613.1:p.Val571=
XM_011516312.1:c.1712_1713delinsTA	XP_011514614.1:p.Val571=
XM_011516313.1:c.1712_1713delinsTA	XP_011514615.1:p.Val571=
XM_011516314.1:c.1733_1734delinsTA	XP_011514616.1:p.Val578=
XM_011516315.1:c.1052_1053delinsTA	XP_011514617.1:p.Val351=
XR_927478.1:n.1808_1809delinsTA
XM_011516308.3:c.1982_1983delinsTA	XP_011514610.3:p.Val661=
XM_011516309.3:c.1982_1983delinsTA	XP_011514611.3:p.Val661=
XM_011516310.3:c.1982_1983delinsTA	XP_011514612.3:p.Val661=
XM_011516311.3:c.1982_1983delinsTA	XP_011514613.3:p.Val661=
XM_011516312.3:c.1982_1983delinsTA	XP_011514614.3:p.Val661=
XM_011516313.3:c.1982_1983delinsTA	XP_011514615.2:p.Val661=
XM_011516315.3:c.1052_1053delinsTA	XP_011514617.2:p.Val351=
XM_017012323.2:c.1712_1713delinsTA	XP_016867812.1:p.Val571=
XR_001744809.2:n.2483_2484delinsTA
XR_001744810.2:n.2478_2479delinsTA
NM_000443.4:c.1712_1713delinsTA MANE Select	NP_000434.1:p.Val571=
NM_018849.3:c.1712_1713delinsTA	NP_061337.1:p.Val571=
NM_018850.3:c.1712_1713delinsTA	NP_061338.1:p.Val571=