Canonical Allele Identifier: CA760458226

Gene: ABCB11

Linked Data

• dbSNP Id: rs764214936
• gnomAD v3: 2-168944807-G-GA
• gnomAD v4: 2-168944807-G-GA
• MyVariant Identifiers: chr2:g.169801317_169801318insA (hg19) ; chr2:g.168944807_168944808insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168944813dup , CM000664.2:g.168944813dup	GRCh38
NC_000002.11:g.169801323dup , CM000664.1:g.169801323dup	GRCh37
NC_000002.10:g.169509569dup	NCBI36
NG_007374.1:g.91516dup
NG_007374.2:g.91589dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.766-42dup	ENSP00000497165.1:n.766-42dup
ENST00000650372.1:c.2449-42dup MANE Select	ENSP00000497931.1:n.2449-42dup
ENST00000263817.6:c.2449-42dup	ENSP00000263817.6:n.2449-42dup
ENST00000439188.1:c.1138-42dup	ENSP00000416058.1:n.1138-42dup
NM_003742.2:c.2449-42dup	NP_003733.2:n.2449-42dup
XM_006712817.2:c.2491-42dup	XP_006712880.1:n.2491-42dup
XM_011512077.1:c.2551-42dup	XP_011510379.1:n.2551-42dup
XM_011512078.1:c.2551-42dup	XP_011510380.1:n.2551-42dup
XM_011512079.1:c.2551-42dup	XP_011510381.1:n.2551-42dup
XM_011512080.1:c.2551-42dup	XP_011510382.1:n.2551-42dup
XM_011512081.1:c.775-42dup	XP_011510383.1:n.775-42dup
NM_003742.4:c.2449-42dup MANE Select	NP_003733.2:n.2449-42dup
XM_006712817.3:c.2491-42dup	XP_006712880.1:n.2491-42dup
XM_011512077.2:c.2551-42dup	XP_011510379.1:n.2551-42dup
XM_011512078.2:c.2551-42dup	XP_011510380.1:n.2551-42dup
XM_011512080.2:c.2551-42dup	XP_011510382.1:n.2551-42dup
XM_011512081.2:c.775-42dup	XP_011510383.1:n.775-42dup
XM_017005165.1:c.2551-42dup	XP_016860654.1:n.2551-42dup
XM_017005166.1:c.1780-42dup	XP_016860655.1:n.1780-42dup
XM_017005167.1:c.1234-42dup	XP_016860656.1:n.1234-42dup