Canonical Allele Identifier: CA2695208145

Gene: ABCB4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87424043_87424050del , CM000669.2:g.87424043_87424050del	GRCh38
NC_000007.13:g.87053359_87053366del , CM000669.1:g.87053359_87053366del	GRCh37
NC_000007.12:g.86891295_86891302del	NCBI36
NG_007118.1:g.61383_61390del
NG_007118.2:g.61383_61390del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.2067_2074del	ENSP00000352135.3:p.Glu689AspfsTer14
ENST00000643670.1:c.2083_2090del	ENSP00000496629.1:n.2083_2090del
ENST00000649586.2:c.2067_2074del MANE Select	ENSP00000496956.2:p.Glu689AspfsTer14
ENST00000265723.8:c.2067_2074del	ENSP00000265723.4:p.Glu689AspfsTer14
ENST00000358400.7:c.2067_2074del	ENSP00000351172.3:p.Glu689AspfsTer14
ENST00000359206.7:c.2067_2074del	ENSP00000352135.3:p.Glu689AspfsTer14
ENST00000453593.5:c.2067_2074del	ENSP00000392983.1:p.Glu689AspfsTer14
ENST00000469770.1:n.271_278del
NM_000443.3:c.2067_2074del	NP_000434.1:p.Glu689AspfsTer14
NM_018849.2:c.2067_2074del	NP_061337.1:p.Glu689AspfsTer14
NM_018850.2:c.2067_2074del	NP_061338.1:p.Glu689AspfsTer14
XM_011516308.1:c.2067_2074del	XP_011514610.1:p.Glu689AspfsTer14
XM_011516309.1:c.2067_2074del	XP_011514611.1:p.Glu689AspfsTer14
XM_011516310.1:c.2067_2074del	XP_011514612.1:p.Glu689AspfsTer14
XM_011516311.1:c.2067_2074del	XP_011514613.1:p.Glu689AspfsTer14
XM_011516312.1:c.2067_2074del	XP_011514614.1:p.Glu689AspfsTer14
XM_011516313.1:c.2067_2074del	XP_011514615.1:p.Glu689AspfsTer14
XM_011516314.1:c.2088_2095del	XP_011514616.1:p.Glu696AspfsTer14
XM_011516315.1:c.1407_1414del	XP_011514617.1:p.Glu469AspfsTer14
XR_927478.1:n.2163_2170del
XM_011516308.3:c.2337_2344del	XP_011514610.3:p.Glu779AspfsTer14
XM_011516309.3:c.2337_2344del	XP_011514611.3:p.Glu779AspfsTer14
XM_011516310.3:c.2337_2344del	XP_011514612.3:p.Glu779AspfsTer14
XM_011516311.3:c.2337_2344del	XP_011514613.3:p.Glu779AspfsTer14
XM_011516312.3:c.2337_2344del	XP_011514614.3:p.Glu779AspfsTer14
XM_011516313.3:c.2337_2344del	XP_011514615.2:p.Glu779AspfsTer14
XM_011516315.3:c.1407_1414del	XP_011514617.2:p.Glu469AspfsTer14
XM_017012323.2:c.2067_2074del	XP_016867812.1:p.Glu689AspfsTer14
XR_001744809.2:n.2838_2845del
XR_001744810.2:n.2833_2840del
NM_000443.4:c.2067_2074del MANE Select	NP_000434.1:p.Glu689AspfsTer14
NM_018849.3:c.2067_2074del	NP_061337.1:p.Glu689AspfsTer14
NM_018850.3:c.2067_2074del	NP_061338.1:p.Glu689AspfsTer14