Canonical Allele Identifier: CA1306213497
Gene: ABCB11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.168944672_168944673delinsTC , CM000664.2:g.168944672_168944673delinsTC GRCh38
NC_000002.11:g.169801182_169801183delinsTC , CM000664.1:g.169801182_169801183delinsTC GRCh37
NC_000002.10:g.169509428_169509429delinsTC NCBI36
NG_007374.1:g.91651_91652delinsGA
NG_007374.2:g.91724_91725delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000649448.1:c.859_860delinsGA ENSP00000497165.1:p.Asp287=
ENST00000650372.1:c.2542_2543delinsGA MANE Select ENSP00000497931.1:p.Asp848=
ENST00000263817.6:c.2542_2543delinsGA ENSP00000263817.6:p.Asp848=
ENST00000439188.1:c.1231_1232delinsGA ENSP00000416058.1:n.1231_1232delinsGA
NM_003742.2:c.2542_2543delinsGA NP_003733.2:p.Asp848=
XM_006712817.2:c.2584_2585delinsGA XP_006712880.1:p.Asp862=
XM_011512077.1:c.2644_2645delinsGA XP_011510379.1:p.Asp882=
XM_011512078.1:c.2644_2645delinsGA XP_011510380.1:p.Asp882=
XM_011512079.1:c.2644_2645delinsGA XP_011510381.1:p.Asp882=
XM_011512080.1:c.2644_2645delinsGA XP_011510382.1:p.Asp882=
XM_011512081.1:c.868_869delinsGA XP_011510383.1:p.Asp290=
NM_003742.4:c.2542_2543delinsGA MANE Select NP_003733.2:p.Asp848=
XM_006712817.3:c.2584_2585delinsGA XP_006712880.1:p.Asp862=
XM_011512077.2:c.2644_2645delinsGA XP_011510379.1:p.Asp882=
XM_011512078.2:c.2644_2645delinsGA XP_011510380.1:p.Asp882=
XM_011512080.2:c.2644_2645delinsGA XP_011510382.1:p.Asp882=
XM_011512081.2:c.868_869delinsGA XP_011510383.1:p.Asp290=
XM_017005165.1:c.2644_2645delinsGA XP_016860654.1:p.Asp882=
XM_017005166.1:c.1873_1874delinsGA XP_016860655.1:p.Asp625=
XM_017005167.1:c.1327_1328delinsGA XP_016860656.1:p.Asp443=