Canonical Allele Identifier: CA1306208089
Gene: ABCB11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.168932343_168932344delinsCT , CM000664.2:g.168932343_168932344delinsCT GRCh38
NC_000002.11:g.169788853_169788854delinsCT , CM000664.1:g.169788853_169788854delinsCT GRCh37
NC_000002.10:g.169497099_169497100delinsCT NCBI36
NG_007374.1:g.103980_103981delinsAG
NG_007374.2:g.104053_104054delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000649448.1:c.1530+33_1530+34delinsAG ENSP00000497165.1:n.1530+33_1530+34delinsAG
ENST00000650372.1:c.3213+33_3213+34delinsAG MANE Select ENSP00000497931.1:n.3213+33_3213+34delinsAG
ENST00000263817.6:c.3213+33_3213+34delinsAG ENSP00000263817.6:n.3213+33_3213+34delinsAG
ENST00000439188.1:c.1902+33_1902+34delinsAG ENSP00000416058.1:n.1902+33_1902+34delinsAG
NM_003742.2:c.3213+33_3213+34delinsAG NP_003733.2:n.3213+33_3213+34delinsAG
XM_006712817.2:c.3255+33_3255+34delinsAG XP_006712880.1:n.3255+33_3255+34delinsAG
XM_011512077.1:c.3315+33_3315+34delinsAG XP_011510379.1:n.3315+33_3315+34delinsAG
XM_011512078.1:c.3315+33_3315+34delinsAG XP_011510380.1:n.3315+33_3315+34delinsAG
XM_011512079.1:c.3315+33_3315+34delinsAG XP_011510381.1:n.3315+33_3315+34delinsAG
XM_011512081.1:c.1539+33_1539+34delinsAG XP_011510383.1:n.1539+33_1539+34delinsAG
NM_003742.4:c.3213+33_3213+34delinsAG MANE Select NP_003733.2:n.3213+33_3213+34delinsAG
XM_006712817.3:c.3255+33_3255+34delinsAG XP_006712880.1:n.3255+33_3255+34delinsAG
XM_011512077.2:c.3315+33_3315+34delinsAG XP_011510379.1:n.3315+33_3315+34delinsAG
XM_011512078.2:c.3315+33_3315+34delinsAG XP_011510380.1:n.3315+33_3315+34delinsAG
XM_011512081.2:c.1539+33_1539+34delinsAG XP_011510383.1:n.1539+33_1539+34delinsAG
XM_017005165.1:c.3315+33_3315+34delinsAG XP_016860654.1:n.3315+33_3315+34delinsAG
XM_017005166.1:c.2544+33_2544+34delinsAG XP_016860655.1:n.2544+33_2544+34delinsAG
XM_017005167.1:c.1998+33_1998+34delinsAG XP_016860656.1:n.1998+33_1998+34delinsAG