Canonical Allele Identifier: CA16621772
Gene: ABCB11 HGNC NCBI

Linked Data

ClinVar Variation Id: 425233
ClinVar RCV Id: RCV000488278
dbSNP Id: rs1064797270

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.168969395_168969396del , CM000664.2:g.168969395_168969396del GRCh38
NC_000002.11:g.169825905_169825906del , CM000664.1:g.169825905_169825906del GRCh37
NC_000002.10:g.169534151_169534152del NCBI36
NG_007374.1:g.66929_66930del
NG_007374.2:g.67002_67003del

Transcript Alleles

HGVS Amino-acid change
ENST00000649448.1:c.283_284del ENSP00000497165.1:p.Leu95AlafsTer9
ENST00000650372.1:c.1966_1967del MANE Select ENSP00000497931.1:p.Leu656AlafsTer9
ENST00000263817.6:c.1966_1967del ENSP00000263817.6:p.Leu656AlafsTer9
ENST00000439188.1:c.655_656del ENSP00000416058.1:n.655_656del
NM_003742.2:c.1966_1967del NP_003733.2:p.Leu656AlafsTer9
XM_006712817.2:c.2008_2009del XP_006712880.1:p.Leu670AlafsTer9
XM_011512077.1:c.2068_2069del XP_011510379.1:p.Leu690AlafsTer9
XM_011512078.1:c.2068_2069del XP_011510380.1:p.Leu690AlafsTer9
XM_011512079.1:c.2068_2069del XP_011510381.1:p.Leu690AlafsTer9
XM_011512080.1:c.2068_2069del XP_011510382.1:p.Leu690AlafsTer9
XM_011512081.1:c.292_293del XP_011510383.1:p.Leu98AlafsTer9
NM_003742.4:c.1966_1967del MANE Select NP_003733.2:p.Leu656AlafsTer9
XM_006712817.3:c.2008_2009del XP_006712880.1:p.Leu670AlafsTer9
XM_011512077.2:c.2068_2069del XP_011510379.1:p.Leu690AlafsTer9
XM_011512078.2:c.2068_2069del XP_011510380.1:p.Leu690AlafsTer9
XM_011512080.2:c.2068_2069del XP_011510382.1:p.Leu690AlafsTer9
XM_011512081.2:c.292_293del XP_011510383.1:p.Leu98AlafsTer9
XM_017005165.1:c.2068_2069del XP_016860654.1:p.Leu690AlafsTer9
XM_017005166.1:c.1297_1298del XP_016860655.1:p.Leu433AlafsTer9
XM_017005167.1:c.751_752del XP_016860656.1:p.Leu251AlafsTer9