Canonical Allele Identifier: CA1306213500

Gene: ABCB11

Linked Data

• ClinVar Variation Id: 2678310
• ClinVar RCV Id: RCV003463500 ; RCV003779097
• dbSNP Id: rs1692220779
• gnomAD v4: 2-168944672-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168944673del , CM000664.2:g.168944673del	GRCh38
NC_000002.11:g.169801183del , CM000664.1:g.169801183del	GRCh37
NC_000002.10:g.169509429del	NCBI36
NG_007374.1:g.91651del
NG_007374.2:g.91724del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.859del	ENSP00000497165.1:p.Asp287MetfsTer10
ENST00000650372.1:c.2542del MANE Select	ENSP00000497931.1:p.Asp848MetfsTer10
ENST00000263817.6:c.2542del	ENSP00000263817.6:p.Asp848MetfsTer10
ENST00000439188.1:c.1231del	ENSP00000416058.1:n.1231del
NM_003742.2:c.2542del	NP_003733.2:p.Asp848MetfsTer10
XM_006712817.2:c.2584del	XP_006712880.1:p.Asp862MetfsTer10
XM_011512077.1:c.2644del	XP_011510379.1:p.Asp882MetfsTer10
XM_011512078.1:c.2644del	XP_011510380.1:p.Asp882MetfsTer10
XM_011512079.1:c.2644del	XP_011510381.1:p.Asp882MetfsTer10
XM_011512080.1:c.2644del	XP_011510382.1:p.Asp882MetfsTer10
XM_011512081.1:c.868del	XP_011510383.1:p.Asp290MetfsTer10
NM_003742.4:c.2542del MANE Select	NP_003733.2:p.Asp848MetfsTer10
XM_006712817.3:c.2584del	XP_006712880.1:p.Asp862MetfsTer10
XM_011512077.2:c.2644del	XP_011510379.1:p.Asp882MetfsTer10
XM_011512078.2:c.2644del	XP_011510380.1:p.Asp882MetfsTer10
XM_011512080.2:c.2644del	XP_011510382.1:p.Asp882MetfsTer10
XM_011512081.2:c.868del	XP_011510383.1:p.Asp290MetfsTer10
XM_017005165.1:c.2644del	XP_016860654.1:p.Asp882MetfsTer10
XM_017005166.1:c.1873del	XP_016860655.1:p.Asp625MetfsTer10
XM_017005167.1:c.1327del	XP_016860656.1:p.Asp443MetfsTer10