Canonical Allele Identifier: CA2661805140

Gene: ABCB11

Linked Data

• ClinVar Variation Id: 2677893
• ClinVar RCV Id: RCV003463304
• gnomAD v4: 2-168944872-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168944876del , CM000664.2:g.168944876del	GRCh38
NC_000002.11:g.169801386del , CM000664.1:g.169801386del	GRCh37
NC_000002.10:g.169509632del	NCBI36
NG_007374.1:g.91451del
NG_007374.2:g.91524del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.749del	ENSP00000497165.1:p.Phe250SerfsTer17
ENST00000650372.1:c.2432del MANE Select	ENSP00000497931.1:p.Phe811SerfsTer17
ENST00000263817.6:c.2432del	ENSP00000263817.6:p.Phe811SerfsTer17
ENST00000439188.1:c.1121del	ENSP00000416058.1:n.1121del
NM_003742.2:c.2432del	NP_003733.2:p.Phe811SerfsTer17
XM_006712817.2:c.2474del	XP_006712880.1:p.Phe825SerfsTer17
XM_011512077.1:c.2534del	XP_011510379.1:p.Phe845SerfsTer17
XM_011512078.1:c.2534del	XP_011510380.1:p.Phe845SerfsTer17
XM_011512079.1:c.2534del	XP_011510381.1:p.Phe845SerfsTer17
XM_011512080.1:c.2534del	XP_011510382.1:p.Phe845SerfsTer17
XM_011512081.1:c.758del	XP_011510383.1:p.Phe253SerfsTer17
NM_003742.4:c.2432del MANE Select	NP_003733.2:p.Phe811SerfsTer17
XM_006712817.3:c.2474del	XP_006712880.1:p.Phe825SerfsTer17
XM_011512077.2:c.2534del	XP_011510379.1:p.Phe845SerfsTer17
XM_011512078.2:c.2534del	XP_011510380.1:p.Phe845SerfsTer17
XM_011512080.2:c.2534del	XP_011510382.1:p.Phe845SerfsTer17
XM_011512081.2:c.758del	XP_011510383.1:p.Phe253SerfsTer17
XM_017005165.1:c.2534del	XP_016860654.1:p.Phe845SerfsTer17
XM_017005166.1:c.1763del	XP_016860655.1:p.Phe588SerfsTer17
XM_017005167.1:c.1217del	XP_016860656.1:p.Phe406SerfsTer17