Canonical Allele Identifier: CA2697557358

Gene: ABCB4

Linked Data

• ClinVar Variation Id: 2687815
• ClinVar RCV Id: RCV003485973

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87439763del , CM000669.2:g.87439763del	GRCh38
NC_000007.13:g.87069079del , CM000669.1:g.87069079del	GRCh37
NC_000007.12:g.86907015del	NCBI36
NG_007118.1:g.45670del
NG_007118.2:g.45670del

Transcript Alleles

HGVS	Amino-acid change
ENST00000359206.8:c.1635del	ENSP00000352135.3:p.Ala546ProfsTer?
ENST00000643670.1:c.1651del	ENSP00000496629.1:n.1651del
ENST00000644106.1:c.*1172del	ENSP00000493477.1:n.*1172del
ENST00000649586.2:c.1635del MANE Select	ENSP00000496956.2:p.Ala546ProfsTer?
ENST00000265723.8:c.1635del	ENSP00000265723.4:p.Ala546ProfsTer?
ENST00000358400.7:c.1635del	ENSP00000351172.3:p.Ala546ProfsTer?
ENST00000359206.7:c.1635del	ENSP00000352135.3:p.Ala546ProfsTer?
ENST00000453593.5:c.1635del	ENSP00000392983.1:p.Ala546ProfsTer?
NM_000443.3:c.1635del	NP_000434.1:p.Ala546ProfsTer?
NM_018849.2:c.1635del	NP_061337.1:p.Ala546ProfsTer?
NM_018850.2:c.1635del	NP_061338.1:p.Ala546ProfsTer?
XM_011516308.1:c.1635del	XP_011514610.1:p.Ala546ProfsTer?
XM_011516309.1:c.1635del	XP_011514611.1:p.Ala546ProfsTer?
XM_011516310.1:c.1635del	XP_011514612.1:p.Ala546ProfsTer?
XM_011516311.1:c.1635del	XP_011514613.1:p.Ala546ProfsTer?
XM_011516312.1:c.1635del	XP_011514614.1:p.Ala546ProfsTer?
XM_011516313.1:c.1635del	XP_011514615.1:p.Ala546ProfsTer?
XM_011516314.1:c.1656del	XP_011514616.1:p.Ala553ProfsTer?
XM_011516315.1:c.975del	XP_011514617.1:p.Ala326ProfsTer?
XR_927478.1:n.1731del
XM_011516308.3:c.1905del	XP_011514610.3:p.Ala636ProfsTer?
XM_011516309.3:c.1905del	XP_011514611.3:p.Ala636ProfsTer?
XM_011516310.3:c.1905del	XP_011514612.3:p.Ala636ProfsTer?
XM_011516311.3:c.1905del	XP_011514613.3:p.Ala636ProfsTer?
XM_011516312.3:c.1905del	XP_011514614.3:p.Ala636ProfsTer?
XM_011516313.3:c.1905del	XP_011514615.2:p.Ala636ProfsTer?
XM_011516315.3:c.975del	XP_011514617.2:p.Ala326ProfsTer?
XM_017012323.2:c.1635del	XP_016867812.1:p.Ala546ProfsTer?
XR_001744809.2:n.2406del
XR_001744810.2:n.2401del
NM_000443.4:c.1635del MANE Select	NP_000434.1:p.Ala546ProfsTer?
NM_018849.3:c.1635del	NP_061337.1:p.Ala546ProfsTer?
NM_018850.3:c.1635del	NP_061338.1:p.Ala546ProfsTer?