Canonical Allele Identifier: CA2573133644

Gene: ABCB11

Linked Data

• ClinVar Variation Id: 1408853
• ClinVar RCV Id: RCV001930238
• dbSNP Id: rs2105912281

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168944656del , CM000664.2:g.168944656del	GRCh38
NC_000002.11:g.169801166del , CM000664.1:g.169801166del	GRCh37
NC_000002.10:g.169509412del	NCBI36
NG_007374.1:g.91670del
NG_007374.2:g.91743del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.878del	ENSP00000497165.1:p.Pro293LeufsTer4
ENST00000650372.1:c.2561del MANE Select	ENSP00000497931.1:p.Pro854LeufsTer4
ENST00000263817.6:c.2561del	ENSP00000263817.6:p.Pro854LeufsTer4
ENST00000439188.1:c.1250del	ENSP00000416058.1:n.1250del
NM_003742.2:c.2561del	NP_003733.2:p.Pro854LeufsTer4
XM_006712817.2:c.2603del	XP_006712880.1:p.Pro868LeufsTer4
XM_011512077.1:c.2663del	XP_011510379.1:p.Pro888LeufsTer4
XM_011512078.1:c.2663del	XP_011510380.1:p.Pro888LeufsTer4
XM_011512079.1:c.2663del	XP_011510381.1:p.Pro888LeufsTer4
XM_011512080.1:c.2663del	XP_011510382.1:p.Pro888LeufsTer4
XM_011512081.1:c.887del	XP_011510383.1:p.Pro296LeufsTer4
NM_003742.4:c.2561del MANE Select	NP_003733.2:p.Pro854LeufsTer4
XM_006712817.3:c.2603del	XP_006712880.1:p.Pro868LeufsTer4
XM_011512077.2:c.2663del	XP_011510379.1:p.Pro888LeufsTer4
XM_011512078.2:c.2663del	XP_011510380.1:p.Pro888LeufsTer4
XM_011512080.2:c.2663del	XP_011510382.1:p.Pro888LeufsTer4
XM_011512081.2:c.887del	XP_011510383.1:p.Pro296LeufsTer4
XM_017005165.1:c.2663del	XP_016860654.1:p.Pro888LeufsTer4
XM_017005166.1:c.1892del	XP_016860655.1:p.Pro631LeufsTer4
XM_017005167.1:c.1346del	XP_016860656.1:p.Pro449LeufsTer4