Canonical Allele Identifier: CA1723587472
Gene: ABCB4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87424038_87424039delinsTG , CM000669.2:g.87424038_87424039delinsTG GRCh38
NC_000007.13:g.87053354_87053355delinsTG , CM000669.1:g.87053354_87053355delinsTG GRCh37
NC_000007.12:g.86891290_86891291delinsTG NCBI36
NG_007118.1:g.61394_61395delinsCA
NG_007118.2:g.61394_61395delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000359206.8:c.2078_2079delinsCA ENSP00000352135.3:p.Pro693=
ENST00000643670.1:c.2094_2095delinsCA ENSP00000496629.1:n.2094_2095delinsCA
ENST00000649586.2:c.2078_2079delinsCA MANE Select ENSP00000496956.2:p.Pro693=
ENST00000265723.8:c.2078_2079delinsCA ENSP00000265723.4:p.Pro693=
ENST00000358400.7:c.2078_2079delinsCA ENSP00000351172.3:p.Pro693=
ENST00000359206.7:c.2078_2079delinsCA ENSP00000352135.3:p.Pro693=
ENST00000453593.5:c.2078_2079delinsCA ENSP00000392983.1:p.Pro693=
ENST00000469770.1:n.282_283delinsCA
NM_000443.3:c.2078_2079delinsCA NP_000434.1:p.Pro693=
NM_018849.2:c.2078_2079delinsCA NP_061337.1:p.Pro693=
NM_018850.2:c.2078_2079delinsCA NP_061338.1:p.Pro693=
XM_011516308.1:c.2078_2079delinsCA XP_011514610.1:p.Pro693=
XM_011516309.1:c.2078_2079delinsCA XP_011514611.1:p.Pro693=
XM_011516310.1:c.2078_2079delinsCA XP_011514612.1:p.Pro693=
XM_011516311.1:c.2078_2079delinsCA XP_011514613.1:p.Pro693=
XM_011516312.1:c.2078_2079delinsCA XP_011514614.1:p.Pro693=
XM_011516313.1:c.2078_2079delinsCA XP_011514615.1:p.Pro693=
XM_011516314.1:c.2099_2100delinsCA XP_011514616.1:p.Pro700=
XM_011516315.1:c.1418_1419delinsCA XP_011514617.1:p.Pro473=
XR_927478.1:n.2174_2175delinsCA
XM_011516308.3:c.2348_2349delinsCA XP_011514610.3:p.Pro783=
XM_011516309.3:c.2348_2349delinsCA XP_011514611.3:p.Pro783=
XM_011516310.3:c.2348_2349delinsCA XP_011514612.3:p.Pro783=
XM_011516311.3:c.2348_2349delinsCA XP_011514613.3:p.Pro783=
XM_011516312.3:c.2348_2349delinsCA XP_011514614.3:p.Pro783=
XM_011516313.3:c.2348_2349delinsCA XP_011514615.2:p.Pro783=
XM_011516315.3:c.1418_1419delinsCA XP_011514617.2:p.Pro473=
XM_017012323.2:c.2078_2079delinsCA XP_016867812.1:p.Pro693=
XR_001744809.2:n.2849_2850delinsCA
XR_001744810.2:n.2844_2845delinsCA
NM_000443.4:c.2078_2079delinsCA MANE Select NP_000434.1:p.Pro693=
NM_018849.3:c.2078_2079delinsCA NP_061337.1:p.Pro693=
NM_018850.3:c.2078_2079delinsCA NP_061338.1:p.Pro693=