Canonical Allele Identifier: CA1723587431
Gene: ABCB4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87424028_87424035delinsAGGACACT , CM000669.2:g.87424028_87424035delinsAGGACACT GRCh38
NC_000007.13:g.87053344_87053351delinsAGGACACT , CM000669.1:g.87053344_87053351delinsAGGACACT GRCh37
NC_000007.12:g.86891280_86891287delinsAGGACACT NCBI36
NG_007118.1:g.61398_61405delinsAGTGTCCT
NG_007118.2:g.61398_61405delinsAGTGTCCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000359206.8:c.2082_2089delinsAGTGTCCT ENSP00000352135.3:p.Pro694=
ENST00000643670.1:c.2098_2105delinsAGTGTCCT ENSP00000496629.1:n.2098_2105delinsAGTGTCCT
ENST00000649586.2:c.2082_2089delinsAGTGTCCT MANE Select ENSP00000496956.2:p.Pro694=
ENST00000265723.8:c.2082_2089delinsAGTGTCCT ENSP00000265723.4:p.Pro694=
ENST00000358400.7:c.2082_2089delinsAGTGTCCT ENSP00000351172.3:p.Pro694=
ENST00000359206.7:c.2082_2089delinsAGTGTCCT ENSP00000352135.3:p.Pro694=
ENST00000453593.5:c.2082_2089delinsAGTGTCCT ENSP00000392983.1:p.Pro694=
ENST00000469770.1:n.286_293delinsAGTGTCCT
NM_000443.3:c.2082_2089delinsAGTGTCCT NP_000434.1:p.Pro694=
NM_018849.2:c.2082_2089delinsAGTGTCCT NP_061337.1:p.Pro694=
NM_018850.2:c.2082_2089delinsAGTGTCCT NP_061338.1:p.Pro694=
XM_011516308.1:c.2082_2089delinsAGTGTCCT XP_011514610.1:p.Pro694=
XM_011516309.1:c.2082_2089delinsAGTGTCCT XP_011514611.1:p.Pro694=
XM_011516310.1:c.2082_2089delinsAGTGTCCT XP_011514612.1:p.Pro694=
XM_011516311.1:c.2082_2089delinsAGTGTCCT XP_011514613.1:p.Pro694=
XM_011516312.1:c.2082_2089delinsAGTGTCCT XP_011514614.1:p.Pro694=
XM_011516313.1:c.2082_2089delinsAGTGTCCT XP_011514615.1:p.Pro694=
XM_011516314.1:c.2103_2110delinsAGTGTCCT XP_011514616.1:p.Pro701=
XM_011516315.1:c.1422_1429delinsAGTGTCCT XP_011514617.1:p.Pro474=
XR_927478.1:n.2178_2185delinsAGTGTCCT
XM_011516308.3:c.2352_2359delinsAGTGTCCT XP_011514610.3:p.Pro784=
XM_011516309.3:c.2352_2359delinsAGTGTCCT XP_011514611.3:p.Pro784=
XM_011516310.3:c.2352_2359delinsAGTGTCCT XP_011514612.3:p.Pro784=
XM_011516311.3:c.2352_2359delinsAGTGTCCT XP_011514613.3:p.Pro784=
XM_011516312.3:c.2352_2359delinsAGTGTCCT XP_011514614.3:p.Pro784=
XM_011516313.3:c.2352_2359delinsAGTGTCCT XP_011514615.2:p.Pro784=
XM_011516315.3:c.1422_1429delinsAGTGTCCT XP_011514617.2:p.Pro474=
XM_017012323.2:c.2082_2089delinsAGTGTCCT XP_016867812.1:p.Pro694=
XR_001744809.2:n.2853_2860delinsAGTGTCCT
XR_001744810.2:n.2848_2855delinsAGTGTCCT
NM_000443.4:c.2082_2089delinsAGTGTCCT MANE Select NP_000434.1:p.Pro694=
NM_018849.3:c.2082_2089delinsAGTGTCCT NP_061337.1:p.Pro694=
NM_018850.3:c.2082_2089delinsAGTGTCCT NP_061338.1:p.Pro694=