Canonical Allele Identifier: CA2580615908

Gene: ABCB4

Linked Data

• ClinVar Variation Id: 1431360
• ClinVar RCV Id: RCV001972047
• dbSNP Id: rs2116463248

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87417343_87417344del , CM000669.2:g.87417343_87417344del	GRCh38
NC_000007.13:g.87046659_87046660del , CM000669.1:g.87046659_87046660del	GRCh37
NC_000007.12:g.86884595_86884596del	NCBI36
NG_007118.1:g.68092_68093del
NG_007118.2:g.68092_68093del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.2653_2654del	ENSP00000352135.3:p.Asp885Ter
ENST00000649586.2:c.2653_2654del MANE Select	ENSP00000496956.2:p.Asp885Ter
ENST00000265723.8:c.2653_2654del	ENSP00000265723.4:p.Asp885Ter
ENST00000358400.7:c.2653_2654del	ENSP00000351172.3:p.Asp885Ter
ENST00000359206.7:c.2653_2654del	ENSP00000352135.3:p.Asp885Ter
ENST00000453593.5:c.2653_2654del	ENSP00000392983.1:p.Asp885Ter
NM_000443.3:c.2653_2654del	NP_000434.1:p.Asp885Ter
NM_018849.2:c.2653_2654del	NP_061337.1:p.Asp885Ter
NM_018850.2:c.2653_2654del	NP_061338.1:p.Asp885Ter
XM_011516308.1:c.2653_2654del	XP_011514610.1:p.Asp885Ter
XM_011516309.1:c.2653_2654del	XP_011514611.1:p.Asp885Ter
XM_011516310.1:c.2548_2549del	XP_011514612.1:p.Asp850Ter
XM_011516311.1:c.2653_2654del	XP_011514613.1:p.Asp885Ter
XM_011516312.1:c.2653_2654del	XP_011514614.1:p.Asp885Ter
XM_011516313.1:c.2653_2654del	XP_011514615.1:p.Asp885Ter
XM_011516314.1:c.2674_2675del	XP_011514616.1:p.Asp892Ter
XM_011516315.1:c.1993_1994del	XP_011514617.1:p.Asp665Ter
XR_927478.1:n.2749_2750del
XM_011516308.3:c.2923_2924del	XP_011514610.3:p.Asp975Ter
XM_011516309.3:c.2923_2924del	XP_011514611.3:p.Asp975Ter
XM_011516310.3:c.2818_2819del	XP_011514612.3:p.Asp940Ter
XM_011516311.3:c.2923_2924del	XP_011514613.3:p.Asp975Ter
XM_011516312.3:c.2923_2924del	XP_011514614.3:p.Asp975Ter
XM_011516313.3:c.2923_2924del	XP_011514615.2:p.Asp975Ter
XM_011516315.3:c.1993_1994del	XP_011514617.2:p.Asp665Ter
XM_017012323.2:c.2653_2654del	XP_016867812.1:p.Asp885Ter
XR_001744809.2:n.3424_3425del
NM_000443.4:c.2653_2654del MANE Select	NP_000434.1:p.Asp885Ter
NM_018849.3:c.2653_2654del	NP_061337.1:p.Asp885Ter
NM_018850.3:c.2653_2654del	NP_061338.1:p.Asp885Ter