Canonical Allele Identifier: CA2697551280

Gene: ABCB11

Linked Data

• ClinVar Variation Id: 2765003
• ClinVar RCV Id: RCV003578139

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168944958_168944959del , CM000664.2:g.168944958_168944959del	GRCh38
NC_000002.11:g.169801468_169801469del , CM000664.1:g.169801468_169801469del	GRCh37
NC_000002.10:g.169509714_169509715del	NCBI36
NG_007374.1:g.91368_91369del
NG_007374.2:g.91441_91442del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.666_667del	ENSP00000497165.1:p.Ser223AsnfsTer3
ENST00000650372.1:c.2349_2350del MANE Select	ENSP00000497931.1:p.Ser784AsnfsTer3
ENST00000263817.6:c.2349_2350del	ENSP00000263817.6:p.Ser784AsnfsTer3
ENST00000439188.1:c.1038_1039del	ENSP00000416058.1:n.1038_1039del
NM_003742.2:c.2349_2350del	NP_003733.2:p.Ser784AsnfsTer3
XM_006712817.2:c.2391_2392del	XP_006712880.1:p.Ser798AsnfsTer3
XM_011512077.1:c.2451_2452del	XP_011510379.1:p.Ser818AsnfsTer3
XM_011512078.1:c.2451_2452del	XP_011510380.1:p.Ser818AsnfsTer3
XM_011512079.1:c.2451_2452del	XP_011510381.1:p.Ser818AsnfsTer3
XM_011512080.1:c.2451_2452del	XP_011510382.1:p.Ser818AsnfsTer3
XM_011512081.1:c.675_676del	XP_011510383.1:p.Ser226AsnfsTer3
NM_003742.4:c.2349_2350del MANE Select	NP_003733.2:p.Ser784AsnfsTer3
XM_006712817.3:c.2391_2392del	XP_006712880.1:p.Ser798AsnfsTer3
XM_011512077.2:c.2451_2452del	XP_011510379.1:p.Ser818AsnfsTer3
XM_011512078.2:c.2451_2452del	XP_011510380.1:p.Ser818AsnfsTer3
XM_011512080.2:c.2451_2452del	XP_011510382.1:p.Ser818AsnfsTer3
XM_011512081.2:c.675_676del	XP_011510383.1:p.Ser226AsnfsTer3
XM_017005165.1:c.2451_2452del	XP_016860654.1:p.Ser818AsnfsTer3
XM_017005166.1:c.1680_1681del	XP_016860655.1:p.Ser561AsnfsTer3
XM_017005167.1:c.1134_1135del	XP_016860656.1:p.Ser379AsnfsTer3