Canonical Allele Identifier: CA1306208102
Gene: ABCB11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.168932360_168932361delinsAG , CM000664.2:g.168932360_168932361delinsAG GRCh38
NC_000002.11:g.169788870_169788871delinsAG , CM000664.1:g.169788870_169788871delinsAG GRCh37
NC_000002.10:g.169497116_169497117delinsAG NCBI36
NG_007374.1:g.103963_103964delinsCT
NG_007374.2:g.104036_104037delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000649448.1:c.1530+16_1530+17delinsCT ENSP00000497165.1:n.1530+16_1530+17delinsCT
ENST00000650372.1:c.3213+16_3213+17delinsCT MANE Select ENSP00000497931.1:n.3213+16_3213+17delinsCT
ENST00000263817.6:c.3213+16_3213+17delinsCT ENSP00000263817.6:n.3213+16_3213+17delinsCT
ENST00000439188.1:c.1902+16_1902+17delinsCT ENSP00000416058.1:n.1902+16_1902+17delinsCT
NM_003742.2:c.3213+16_3213+17delinsCT NP_003733.2:n.3213+16_3213+17delinsCT
XM_006712817.2:c.3255+16_3255+17delinsCT XP_006712880.1:n.3255+16_3255+17delinsCT
XM_011512077.1:c.3315+16_3315+17delinsCT XP_011510379.1:n.3315+16_3315+17delinsCT
XM_011512078.1:c.3315+16_3315+17delinsCT XP_011510380.1:n.3315+16_3315+17delinsCT
XM_011512079.1:c.3315+16_3315+17delinsCT XP_011510381.1:n.3315+16_3315+17delinsCT
XM_011512081.1:c.1539+16_1539+17delinsCT XP_011510383.1:n.1539+16_1539+17delinsCT
NM_003742.4:c.3213+16_3213+17delinsCT MANE Select NP_003733.2:n.3213+16_3213+17delinsCT
XM_006712817.3:c.3255+16_3255+17delinsCT XP_006712880.1:n.3255+16_3255+17delinsCT
XM_011512077.2:c.3315+16_3315+17delinsCT XP_011510379.1:n.3315+16_3315+17delinsCT
XM_011512078.2:c.3315+16_3315+17delinsCT XP_011510380.1:n.3315+16_3315+17delinsCT
XM_011512081.2:c.1539+16_1539+17delinsCT XP_011510383.1:n.1539+16_1539+17delinsCT
XM_017005165.1:c.3315+16_3315+17delinsCT XP_016860654.1:n.3315+16_3315+17delinsCT
XM_017005166.1:c.2544+16_2544+17delinsCT XP_016860655.1:n.2544+16_2544+17delinsCT
XM_017005167.1:c.1998+16_1998+17delinsCT XP_016860656.1:n.1998+16_1998+17delinsCT