Canonical Allele Identifier: CA2661805282

Gene: ABCB11

Linked Data

• gnomAD v4: 2-168944954-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168944959del , CM000664.2:g.168944959del	GRCh38
NC_000002.11:g.169801469del , CM000664.1:g.169801469del	GRCh37
NC_000002.10:g.169509715del	NCBI36
NG_007374.1:g.91369del
NG_007374.2:g.91442del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.667del	ENSP00000497165.1:p.Ser223GlnfsTer20
ENST00000650372.1:c.2350del MANE Select	ENSP00000497931.1:p.Ser784GlnfsTer20
ENST00000263817.6:c.2350del	ENSP00000263817.6:p.Ser784GlnfsTer20
ENST00000439188.1:c.1039del	ENSP00000416058.1:n.1039del
NM_003742.2:c.2350del	NP_003733.2:p.Ser784GlnfsTer20
XM_006712817.2:c.2392del	XP_006712880.1:p.Ser798GlnfsTer20
XM_011512077.1:c.2452del	XP_011510379.1:p.Ser818GlnfsTer20
XM_011512078.1:c.2452del	XP_011510380.1:p.Ser818GlnfsTer20
XM_011512079.1:c.2452del	XP_011510381.1:p.Ser818GlnfsTer20
XM_011512080.1:c.2452del	XP_011510382.1:p.Ser818GlnfsTer20
XM_011512081.1:c.676del	XP_011510383.1:p.Ser226GlnfsTer20
NM_003742.4:c.2350del MANE Select	NP_003733.2:p.Ser784GlnfsTer20
XM_006712817.3:c.2392del	XP_006712880.1:p.Ser798GlnfsTer20
XM_011512077.2:c.2452del	XP_011510379.1:p.Ser818GlnfsTer20
XM_011512078.2:c.2452del	XP_011510380.1:p.Ser818GlnfsTer20
XM_011512080.2:c.2452del	XP_011510382.1:p.Ser818GlnfsTer20
XM_011512081.2:c.676del	XP_011510383.1:p.Ser226GlnfsTer20
XM_017005165.1:c.2452del	XP_016860654.1:p.Ser818GlnfsTer20
XM_017005166.1:c.1681del	XP_016860655.1:p.Ser561GlnfsTer20
XM_017005167.1:c.1135del	XP_016860656.1:p.Ser379GlnfsTer20