Canonical Allele Identifier: CA123364
Gene: ABCB4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87443346_87443347delinsTTG , CM000669.2:g.87443346_87443347delinsTTG GRCh38
NC_000007.13:g.87072662_87072663delinsTTG , CM000669.1:g.87072662_87072663delinsTTG GRCh37
NC_000007.12:g.86910598_86910599delinsTTG NCBI36
NG_007118.1:g.42086_42087delinsCAA
NG_007118.2:g.42086_42087delinsCAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000359206.8:c.1328_1329delinsCAA ENSP00000352135.3:p.Gln443ProfsTer5
ENST00000643670.1:c.1344_1345delinsCAA ENSP00000496629.1:n.1344_1345delinsCAA
ENST00000644106.1:c.*865_*866delinsCAA ENSP00000493477.1:n.*865_*866delinsCAA
ENST00000649586.2:c.1328_1329delinsCAA MANE Select ENSP00000496956.2:p.Gln443ProfsTer5
ENST00000265723.8:c.1328_1329delinsCAA ENSP00000265723.4:p.Gln443ProfsTer5
ENST00000358400.7:c.1328_1329delinsCAA ENSP00000351172.3:p.Gln443ProfsTer5
ENST00000359206.7:c.1328_1329delinsCAA ENSP00000352135.3:p.Gln443ProfsTer5
ENST00000453593.5:c.1328_1329delinsCAA ENSP00000392983.1:p.Gln443ProfsTer5
NM_000443.3:c.1328_1329delinsCAA NP_000434.1:p.Gln443ProfsTer5
NM_018849.2:c.1328_1329delinsCAA NP_061337.1:p.Gln443ProfsTer5
NM_018850.2:c.1328_1329delinsCAA NP_061338.1:p.Gln443ProfsTer5
XM_011516308.1:c.1328_1329delinsCAA XP_011514610.1:p.Gln443ProfsTer5
XM_011516309.1:c.1328_1329delinsCAA XP_011514611.1:p.Gln443ProfsTer5
XM_011516310.1:c.1328_1329delinsCAA XP_011514612.1:p.Gln443ProfsTer5
XM_011516311.1:c.1328_1329delinsCAA XP_011514613.1:p.Gln443ProfsTer5
XM_011516312.1:c.1328_1329delinsCAA XP_011514614.1:p.Gln443ProfsTer5
XM_011516313.1:c.1328_1329delinsCAA XP_011514615.1:p.Gln443ProfsTer5
XM_011516314.1:c.1349_1350delinsCAA XP_011514616.1:p.Gln450ProfsTer5
XM_011516315.1:c.668_669delinsCAA XP_011514617.1:p.Gln223ProfsTer5
XR_927478.1:n.1424_1425delinsCAA
XM_011516308.3:c.1598_1599delinsCAA XP_011514610.3:p.Gln533ProfsTer5
XM_011516309.3:c.1598_1599delinsCAA XP_011514611.3:p.Gln533ProfsTer5
XM_011516310.3:c.1598_1599delinsCAA XP_011514612.3:p.Gln533ProfsTer5
XM_011516311.3:c.1598_1599delinsCAA XP_011514613.3:p.Gln533ProfsTer5
XM_011516312.3:c.1598_1599delinsCAA XP_011514614.3:p.Gln533ProfsTer5
XM_011516313.3:c.1598_1599delinsCAA XP_011514615.2:p.Gln533ProfsTer5
XM_011516315.3:c.668_669delinsCAA XP_011514617.2:p.Gln223ProfsTer5
XM_017012323.2:c.1328_1329delinsCAA XP_016867812.1:p.Gln443ProfsTer5
XR_001744809.2:n.2099_2100delinsCAA
XR_001744810.2:n.2094_2095delinsCAA
NM_000443.4:c.1328_1329delinsCAA MANE Select NP_000434.1:p.Gln443ProfsTer5
NM_018849.3:c.1328_1329delinsCAA NP_061337.1:p.Gln443ProfsTer5
NM_018850.3:c.1328_1329delinsCAA NP_061338.1:p.Gln443ProfsTer5