Canonical Allele Identifier: CA915942946

Gene: ABCB11

Linked Data

• ClinVar Variation Id: 642518
• ClinVar RCV Id: RCV000795996
• dbSNP Id: rs1574415738

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168944720del , CM000664.2:g.168944720del	GRCh38
NC_000002.11:g.169801230del , CM000664.1:g.169801230del	GRCh37
NC_000002.10:g.169509476del	NCBI36
NG_007374.1:g.91604del
NG_007374.2:g.91677del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.812del	ENSP00000497165.1:p.Arg271LeufsTer26
ENST00000650372.1:c.2495del MANE Select	ENSP00000497931.1:p.Arg832LeufsTer26
ENST00000263817.6:c.2495del	ENSP00000263817.6:p.Arg832LeufsTer26
ENST00000439188.1:c.1184del	ENSP00000416058.1:n.1184del
NM_003742.2:c.2495del	NP_003733.2:p.Arg832LeufsTer26
XM_006712817.2:c.2537del	XP_006712880.1:p.Arg846LeufsTer26
XM_011512077.1:c.2597del	XP_011510379.1:p.Arg866LeufsTer26
XM_011512078.1:c.2597del	XP_011510380.1:p.Arg866LeufsTer26
XM_011512079.1:c.2597del	XP_011510381.1:p.Arg866LeufsTer26
XM_011512080.1:c.2597del	XP_011510382.1:p.Arg866LeufsTer26
XM_011512081.1:c.821del	XP_011510383.1:p.Arg274LeufsTer26
NM_003742.4:c.2495del MANE Select	NP_003733.2:p.Arg832LeufsTer26
XM_006712817.3:c.2537del	XP_006712880.1:p.Arg846LeufsTer26
XM_011512077.2:c.2597del	XP_011510379.1:p.Arg866LeufsTer26
XM_011512078.2:c.2597del	XP_011510380.1:p.Arg866LeufsTer26
XM_011512080.2:c.2597del	XP_011510382.1:p.Arg866LeufsTer26
XM_011512081.2:c.821del	XP_011510383.1:p.Arg274LeufsTer26
XM_017005165.1:c.2597del	XP_016860654.1:p.Arg866LeufsTer26
XM_017005166.1:c.1826del	XP_016860655.1:p.Arg609LeufsTer26
XM_017005167.1:c.1280del	XP_016860656.1:p.Arg427LeufsTer26