Canonical Allele Identifier: CA10605842

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168976615del , CM000664.2:g.168976615del	GRCh38
NC_000002.11:g.169833125del , CM000664.1:g.169833125del	GRCh37
NC_000002.10:g.169541371del	NCBI36
NG_007374.1:g.59710del
NG_007374.2:g.59783del

Transcript Alleles

HGVS	Amino-acid Change
NM_003742.4:c.1271del MANE Select	NP_003733.2:p.Asn424MetfsTer2
ENST00000650372.1:c.1271del MANE Select	ENSP00000497931.1:p.Asn424MetfsTer2
NM_003742.2:c.1271del	NP_003733.2:p.Asn424MetfsTer2
ENST00000263817.6:c.1271del	ENSP00000263817.6:p.Asn424MetfsTer2
XM_006712817.2:c.1313del	XP_006712880.1:p.Asn438MetfsTer2
XM_006712817.3:c.1313del	XP_006712880.1:p.Asn438MetfsTer2
XM_011512077.1:c.1373del	XP_011510379.1:p.Asn458MetfsTer2
XM_011512077.2:c.1373del	XP_011510379.1:p.Asn458MetfsTer2
XM_011512078.1:c.1373del	XP_011510380.1:p.Asn458MetfsTer2
XM_011512078.2:c.1373del	XP_011510380.1:p.Asn458MetfsTer2
XM_011512079.1:c.1373del	XP_011510381.1:p.Asn458MetfsTer2
XM_011512080.1:c.1373del	XP_011510382.1:p.Asn458MetfsTer2
XM_011512080.2:c.1373del	XP_011510382.1:p.Asn458MetfsTer2
XM_017005165.1:c.1373del	XP_016860654.1:p.Asn458MetfsTer2
XM_017005166.1:c.602del	XP_016860655.1:p.Asn201MetfsTer2
XM_017005167.1:c.56del	XP_016860656.1:p.Asn19MetfsTer2