Canonical Allele Identifier: CA2700973812
Gene: ABCB11 HGNC NCBI

Linked Data

dbSNP Id: rs2105872283

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.168923147del , CM000664.2:g.168923147del GRCh38
NC_000002.11:g.169779657del , CM000664.1:g.169779657del GRCh37
NC_000002.10:g.169487903del NCBI36
NG_007374.1:g.113178del
NG_007374.2:g.113251del

Transcript Alleles

HGVS Amino-acid Change
ENST00000648875.1:c.226+1511del
ENST00000649448.1:c.2819del ENSP00000497165.1:n.2819del
ENST00000650372.1:c.*476del MANE Select ENSP00000497931.1:n.*476del
ENST00000263817.6:c.*476del ENSP00000263817.6:n.*476del
NM_003742.2:c.*476del NP_003733.2:n.*476del
XM_006712817.2:c.*476del XP_006712880.1:n.*476del
XM_011512077.1:c.*476del XP_011510379.1:n.*476del
XM_011512078.1:c.*430del XP_011510380.1:n.*430del
XM_011512079.1:c.*476del XP_011510381.1:n.*476del
XM_011512081.1:c.*476del XP_011510383.1:n.*476del
NM_003742.4:c.*476del MANE Select NP_003733.2:n.*476del
XM_006712817.3:c.*476del XP_006712880.1:n.*476del
XM_011512077.2:c.*476del XP_011510379.1:n.*476del
XM_011512078.2:c.*430del XP_011510380.1:n.*430del
XM_011512081.2:c.*476del XP_011510383.1:n.*476del
XM_017005165.1:c.3867+1511del XP_016860654.1:n.3867+1511del
XM_017005166.1:c.*476del XP_016860655.1:n.*476del
XM_017005167.1:c.*476del XP_016860656.1:n.*476del