Canonical Allele Identifier: CA1306202049
Gene: ABCB11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.168928306_168928307delinsTG , CM000664.2:g.168928306_168928307delinsTG GRCh38
NC_000002.11:g.169784816_169784817delinsTG , CM000664.1:g.169784816_169784817delinsTG GRCh37
NC_000002.10:g.169493062_169493063delinsTG NCBI36
NG_007374.1:g.108017_108018delinsCA
NG_007374.2:g.108090_108091delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000649448.1:c.1789-945_1789-944delinsCA ENSP00000497165.1:n.1789-945_1789-944delinsCA
ENST00000650372.1:c.3412-945_3412-944delinsCA MANE Select ENSP00000497931.1:n.3412-945_3412-944delinsCA
ENST00000263817.6:c.3412-945_3412-944delinsCA ENSP00000263817.6:n.3412-945_3412-944delinsCA
ENST00000439188.1:c.2101-1017_2101-1016delinsCA ENSP00000416058.1:n.2101-1017_2101-1016delinsCA
NM_003742.2:c.3412-945_3412-944delinsCA NP_003733.2:n.3412-945_3412-944delinsCA
XM_006712817.2:c.3454-945_3454-944delinsCA XP_006712880.1:n.3454-945_3454-944delinsCA
XM_011512077.1:c.3514-945_3514-944delinsCA XP_011510379.1:n.3514-945_3514-944delinsCA
XM_011512078.1:c.3514-945_3514-944delinsCA XP_011510380.1:n.3514-945_3514-944delinsCA
XM_011512079.1:c.3514-945_3514-944delinsCA XP_011510381.1:n.3514-945_3514-944delinsCA
XM_011512081.1:c.1738-945_1738-944delinsCA XP_011510383.1:n.1738-945_1738-944delinsCA
NM_003742.4:c.3412-945_3412-944delinsCA MANE Select NP_003733.2:n.3412-945_3412-944delinsCA
XM_006712817.3:c.3454-945_3454-944delinsCA XP_006712880.1:n.3454-945_3454-944delinsCA
XM_011512077.2:c.3514-945_3514-944delinsCA XP_011510379.1:n.3514-945_3514-944delinsCA
XM_011512078.2:c.3514-945_3514-944delinsCA XP_011510380.1:n.3514-945_3514-944delinsCA
XM_011512081.2:c.1738-945_1738-944delinsCA XP_011510383.1:n.1738-945_1738-944delinsCA
XM_017005165.1:c.3514-945_3514-944delinsCA XP_016860654.1:n.3514-945_3514-944delinsCA
XM_017005166.1:c.2743-945_2743-944delinsCA XP_016860655.1:n.2743-945_2743-944delinsCA
XM_017005167.1:c.2197-945_2197-944delinsCA XP_016860656.1:n.2197-945_2197-944delinsCA