Canonical Allele Identifier: CA1723571780

Gene: ABCB4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87447145_87447146delinsGT , CM000669.2:g.87447145_87447146delinsGT	GRCh38
NC_000007.13:g.87076461_87076462delinsGT , CM000669.1:g.87076461_87076462delinsGT	GRCh37
NC_000007.12:g.86914397_86914398delinsGT	NCBI36
NG_007118.1:g.38287_38288delinsAC
NG_007118.2:g.38287_38288delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.893_894delinsAC	ENSP00000352135.3:p.Asn298=
ENST00000643670.1:c.909_910delinsAC	ENSP00000496629.1:n.909_910delinsAC
ENST00000644106.1:c.*430_*431delinsAC	ENSP00000493477.1:n.*430_*431delinsAC
ENST00000649586.2:c.893_894delinsAC MANE Select	ENSP00000496956.2:p.Asn298=
ENST00000265723.8:c.893_894delinsAC	ENSP00000265723.4:p.Asn298=
ENST00000358400.7:c.893_894delinsAC	ENSP00000351172.3:p.Asn298=
ENST00000359206.7:c.893_894delinsAC	ENSP00000352135.3:p.Asn298=
ENST00000453593.5:c.893_894delinsAC	ENSP00000392983.1:p.Asn298=
NM_000443.3:c.893_894delinsAC	NP_000434.1:p.Asn298=
NM_018849.2:c.893_894delinsAC	NP_061337.1:p.Asn298=
NM_018850.2:c.893_894delinsAC	NP_061338.1:p.Asn298=
XM_011516308.1:c.893_894delinsAC	XP_011514610.1:p.Asn298=
XM_011516309.1:c.893_894delinsAC	XP_011514611.1:p.Asn298=
XM_011516310.1:c.893_894delinsAC	XP_011514612.1:p.Asn298=
XM_011516311.1:c.893_894delinsAC	XP_011514613.1:p.Asn298=
XM_011516312.1:c.893_894delinsAC	XP_011514614.1:p.Asn298=
XM_011516313.1:c.893_894delinsAC	XP_011514615.1:p.Asn298=
XM_011516314.1:c.914_915delinsAC	XP_011514616.1:p.Asn305=
XM_011516315.1:c.233_234delinsAC	XP_011514617.1:p.Asn78=
XR_927478.1:n.989_990delinsAC
XM_011516308.3:c.1163_1164delinsAC	XP_011514610.3:p.Asn388=
XM_011516309.3:c.1163_1164delinsAC	XP_011514611.3:p.Asn388=
XM_011516310.3:c.1163_1164delinsAC	XP_011514612.3:p.Asn388=
XM_011516311.3:c.1163_1164delinsAC	XP_011514613.3:p.Asn388=
XM_011516312.3:c.1163_1164delinsAC	XP_011514614.3:p.Asn388=
XM_011516313.3:c.1163_1164delinsAC	XP_011514615.2:p.Asn388=
XM_011516315.3:c.233_234delinsAC	XP_011514617.2:p.Asn78=
XM_017012323.2:c.893_894delinsAC	XP_016867812.1:p.Asn298=
XR_001744809.2:n.1664_1665delinsAC
XR_001744810.2:n.1659_1660delinsAC
NM_000443.4:c.893_894delinsAC MANE Select	NP_000434.1:p.Asn298=
NM_018849.3:c.893_894delinsAC	NP_061337.1:p.Asn298=
NM_018850.3:c.893_894delinsAC	NP_061338.1:p.Asn298=