Canonical Allele Identifier: CA915945330

Gene: ABCB4

Linked Data

• ClinVar Variation Id: 812751
• ClinVar RCV Id: RCV001003560
• dbSNP Id: rs1584754766

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87447148del , CM000669.2:g.87447148del	GRCh38
NC_000007.13:g.87076464del , CM000669.1:g.87076464del	GRCh37
NC_000007.12:g.86914400del	NCBI36
NG_007118.1:g.38287del
NG_007118.2:g.38287del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.893del	ENSP00000352135.3:p.Asn298ThrfsTer10
ENST00000643670.1:c.909del	ENSP00000496629.1:n.909del
ENST00000644106.1:c.*430del	ENSP00000493477.1:n.*430del
ENST00000649586.2:c.893del MANE Select	ENSP00000496956.2:p.Asn298ThrfsTer10
ENST00000265723.8:c.893del	ENSP00000265723.4:p.Asn298ThrfsTer10
ENST00000358400.7:c.893del	ENSP00000351172.3:p.Asn298ThrfsTer10
ENST00000359206.7:c.893del	ENSP00000352135.3:p.Asn298ThrfsTer10
ENST00000453593.5:c.893del	ENSP00000392983.1:p.Asn298ThrfsTer10
NM_000443.3:c.893del	NP_000434.1:p.Asn298ThrfsTer10
NM_018849.2:c.893del	NP_061337.1:p.Asn298ThrfsTer10
NM_018850.2:c.893del	NP_061338.1:p.Asn298ThrfsTer10
XM_011516308.1:c.893del	XP_011514610.1:p.Asn298ThrfsTer10
XM_011516309.1:c.893del	XP_011514611.1:p.Asn298ThrfsTer10
XM_011516310.1:c.893del	XP_011514612.1:p.Asn298ThrfsTer10
XM_011516311.1:c.893del	XP_011514613.1:p.Asn298ThrfsTer10
XM_011516312.1:c.893del	XP_011514614.1:p.Asn298ThrfsTer10
XM_011516313.1:c.893del	XP_011514615.1:p.Asn298ThrfsTer10
XM_011516314.1:c.914del	XP_011514616.1:p.Asn305ThrfsTer10
XM_011516315.1:c.233del	XP_011514617.1:p.Asn78ThrfsTer10
XR_927478.1:n.989del
XM_011516308.3:c.1163del	XP_011514610.3:p.Asn388ThrfsTer10
XM_011516309.3:c.1163del	XP_011514611.3:p.Asn388ThrfsTer10
XM_011516310.3:c.1163del	XP_011514612.3:p.Asn388ThrfsTer10
XM_011516311.3:c.1163del	XP_011514613.3:p.Asn388ThrfsTer10
XM_011516312.3:c.1163del	XP_011514614.3:p.Asn388ThrfsTer10
XM_011516313.3:c.1163del	XP_011514615.2:p.Asn388ThrfsTer10
XM_011516315.3:c.233del	XP_011514617.2:p.Asn78ThrfsTer10
XM_017012323.2:c.893del	XP_016867812.1:p.Asn298ThrfsTer10
XR_001744809.2:n.1664del
XR_001744810.2:n.1659del
NM_000443.4:c.893del MANE Select	NP_000434.1:p.Asn298ThrfsTer10
NM_018849.3:c.893del	NP_061337.1:p.Asn298ThrfsTer10
NM_018850.3:c.893del	NP_061338.1:p.Asn298ThrfsTer10