Canonical Allele Identifier: CA647518710
Gene: ABCB11 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.168922992_168922993insC , CM000664.2:g.168922992_168922993insC GRCh38
NC_000002.11:g.169779502_169779503insC , CM000664.1:g.169779502_169779503insC GRCh37
NC_000002.10:g.169487748_169487749insC NCBI36
NG_007374.1:g.113331_113332insG
NG_007374.2:g.113404_113405insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000648875.1:c.226+1664_226+1665insG
ENST00000649448.1:c.2972_2973insG ENSP00000497165.1:n.2972_2973insG
ENST00000650372.1:c.*629_*630insG MANE Select ENSP00000497931.1:n.*629_*630insG
ENST00000263817.6:c.*629_*630insG ENSP00000263817.6:n.*629_*630insG
NM_003742.2:c.*629_*630insG NP_003733.2:n.*629_*630insG
XM_006712817.2:c.*629_*630insG XP_006712880.1:n.*629_*630insG
XM_011512077.1:c.*629_*630insG XP_011510379.1:n.*629_*630insG
XM_011512078.1:c.*583_*584insG XP_011510380.1:n.*583_*584insG
XM_011512079.1:c.*629_*630insG XP_011510381.1:n.*629_*630insG
XM_011512081.1:c.*629_*630insG XP_011510383.1:n.*629_*630insG
NM_003742.4:c.*629_*630insG MANE Select NP_003733.2:n.*629_*630insG
XM_006712817.3:c.*629_*630insG XP_006712880.1:n.*629_*630insG
XM_011512077.2:c.*629_*630insG XP_011510379.1:n.*629_*630insG
XM_011512078.2:c.*583_*584insG XP_011510380.1:n.*583_*584insG
XM_011512081.2:c.*629_*630insG XP_011510383.1:n.*629_*630insG
XM_017005165.1:c.3867+1664_3867+1665insG XP_016860654.1:n.3867+1664_3867+1665insG
XM_017005166.1:c.*629_*630insG XP_016860655.1:n.*629_*630insG
XM_017005167.1:c.*629_*630insG XP_016860656.1:n.*629_*630insG