Canonical Allele Identifier: CA2661802366

Gene: ABCB11

Linked Data

• gnomAD v4: 2-168922952-C-CCTG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168922952_168922953insCTG , CM000664.2:g.168922952_168922953insCTG	GRCh38
NC_000002.11:g.169779462_169779463insCTG , CM000664.1:g.169779462_169779463insCTG	GRCh37
NC_000002.10:g.169487708_169487709insCTG	NCBI36
NG_007374.1:g.113371_113372insCAG
NG_007374.2:g.113444_113445insCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648875.1:c.226+1704_226+1705insCAG
ENST00000650372.1:c.*669_*670insCAG MANE Select	ENSP00000497931.1:n.*669_*670insCAG
ENST00000263817.6:c.*669_*670insCAG	ENSP00000263817.6:n.*669_*670insCAG
NM_003742.2:c.*669_*670insCAG	NP_003733.2:n.*669_*670insCAG
XM_006712817.2:c.*669_*670insCAG	XP_006712880.1:n.*669_*670insCAG
XM_011512077.1:c.*669_*670insCAG	XP_011510379.1:n.*669_*670insCAG
XM_011512078.1:c.*623_*624insCAG	XP_011510380.1:n.*623_*624insCAG
XM_011512079.1:c.*669_*670insCAG	XP_011510381.1:n.*669_*670insCAG
XM_011512081.1:c.*669_*670insCAG	XP_011510383.1:n.*669_*670insCAG
NM_003742.4:c.*669_*670insCAG MANE Select	NP_003733.2:n.*669_*670insCAG
XM_006712817.3:c.*669_*670insCAG	XP_006712880.1:n.*669_*670insCAG
XM_011512077.2:c.*669_*670insCAG	XP_011510379.1:n.*669_*670insCAG
XM_011512078.2:c.*623_*624insCAG	XP_011510380.1:n.*623_*624insCAG
XM_011512081.2:c.*669_*670insCAG	XP_011510383.1:n.*669_*670insCAG
XM_017005165.1:c.3867+1704_3867+1705insCAG	XP_016860654.1:n.3867+1704_3867+1705insCAG
XM_017005166.1:c.*669_*670insCAG	XP_016860655.1:n.*669_*670insCAG
XM_017005167.1:c.*669_*670insCAG	XP_016860656.1:n.*669_*670insCAG