Canonical Allele Identifier: CA2661805193

Gene: ABCB11

Linked Data

• gnomAD v4: 2-168944905-TAGGCACAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168944907_168944914del , CM000664.2:g.168944907_168944914del	GRCh38
NC_000002.11:g.169801417_169801424del , CM000664.1:g.169801417_169801424del	GRCh37
NC_000002.10:g.169509663_169509670del	NCBI36
NG_007374.1:g.91411_91418del
NG_007374.2:g.91484_91491del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.709_716del	ENSP00000497165.1:p.Val237ThrfsTer22
ENST00000650372.1:c.2392_2399del MANE Select	ENSP00000497931.1:p.Val798ThrfsTer22
ENST00000263817.6:c.2392_2399del	ENSP00000263817.6:p.Val798ThrfsTer22
ENST00000439188.1:c.1081_1088del	ENSP00000416058.1:n.1081_1088del
NM_003742.2:c.2392_2399del	NP_003733.2:p.Val798ThrfsTer22
XM_006712817.2:c.2434_2441del	XP_006712880.1:p.Val812ThrfsTer22
XM_011512077.1:c.2494_2501del	XP_011510379.1:p.Val832ThrfsTer22
XM_011512078.1:c.2494_2501del	XP_011510380.1:p.Val832ThrfsTer22
XM_011512079.1:c.2494_2501del	XP_011510381.1:p.Val832ThrfsTer22
XM_011512080.1:c.2494_2501del	XP_011510382.1:p.Val832ThrfsTer22
XM_011512081.1:c.718_725del	XP_011510383.1:p.Val240ThrfsTer22
NM_003742.4:c.2392_2399del MANE Select	NP_003733.2:p.Val798ThrfsTer22
XM_006712817.3:c.2434_2441del	XP_006712880.1:p.Val812ThrfsTer22
XM_011512077.2:c.2494_2501del	XP_011510379.1:p.Val832ThrfsTer22
XM_011512078.2:c.2494_2501del	XP_011510380.1:p.Val832ThrfsTer22
XM_011512080.2:c.2494_2501del	XP_011510382.1:p.Val832ThrfsTer22
XM_011512081.2:c.718_725del	XP_011510383.1:p.Val240ThrfsTer22
XM_017005165.1:c.2494_2501del	XP_016860654.1:p.Val832ThrfsTer22
XM_017005166.1:c.1723_1730del	XP_016860655.1:p.Val575ThrfsTer22
XM_017005167.1:c.1177_1184del	XP_016860656.1:p.Val393ThrfsTer22