Canonical Allele Identifier: CA1951264

Gene: ABCB11

Linked Data

• ClinVar Variation Id: 1028652
• ClinVar RCV Id: RCV001329748
• dbSNP Id: rs756323541
• ExAC: 2:169801236 CT / C
• gnomAD v2: 2-169801236-CT-C
• MyVariant Identifiers: chr2:g.169801237del (hg19) ; chr2:g.168944727del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168944731del , CM000664.2:g.168944731del	GRCh38
NC_000002.11:g.169801241del , CM000664.1:g.169801241del	GRCh37
NC_000002.10:g.169509487del	NCBI36
NG_007374.1:g.91597del
NG_007374.2:g.91670del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.805del	ENSP00000497165.1:p.Arg269GlyfsTer28
ENST00000650372.1:c.2488del MANE Select	ENSP00000497931.1:p.Arg830GlyfsTer28
ENST00000263817.6:c.2488del	ENSP00000263817.6:p.Arg830GlyfsTer28
ENST00000439188.1:c.1177del	ENSP00000416058.1:n.1177del
NM_003742.2:c.2488del	NP_003733.2:p.Arg830GlyfsTer28
XM_006712817.2:c.2530del	XP_006712880.1:p.Arg844GlyfsTer28
XM_011512077.1:c.2590del	XP_011510379.1:p.Arg864GlyfsTer28
XM_011512078.1:c.2590del	XP_011510380.1:p.Arg864GlyfsTer28
XM_011512079.1:c.2590del	XP_011510381.1:p.Arg864GlyfsTer28
XM_011512080.1:c.2590del	XP_011510382.1:p.Arg864GlyfsTer28
XM_011512081.1:c.814del	XP_011510383.1:p.Arg272GlyfsTer28
NM_003742.4:c.2488del MANE Select	NP_003733.2:p.Arg830GlyfsTer28
XM_006712817.3:c.2530del	XP_006712880.1:p.Arg844GlyfsTer28
XM_011512077.2:c.2590del	XP_011510379.1:p.Arg864GlyfsTer28
XM_011512078.2:c.2590del	XP_011510380.1:p.Arg864GlyfsTer28
XM_011512080.2:c.2590del	XP_011510382.1:p.Arg864GlyfsTer28
XM_011512081.2:c.814del	XP_011510383.1:p.Arg272GlyfsTer28
XM_017005165.1:c.2590del	XP_016860654.1:p.Arg864GlyfsTer28
XM_017005166.1:c.1819del	XP_016860655.1:p.Arg607GlyfsTer28
XM_017005167.1:c.1273del	XP_016860656.1:p.Arg425GlyfsTer28