Canonical Allele Identifier: CA760462010

Gene: ABCB11

Linked Data

• dbSNP Id: rs1190336466
• MyVariant Identifiers: chr2:g.169779789_169779790insA (hg19) ; chr2:g.168923279_168923280insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168923280dup , CM000664.2:g.168923280dup	GRCh38
NC_000002.11:g.169779790dup , CM000664.1:g.169779790dup	GRCh37
NC_000002.10:g.169488036dup	NCBI36
NG_007374.1:g.113044dup
NG_007374.2:g.113117dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648875.1:c.226+1377dup
ENST00000649448.1:c.2685dup	ENSP00000497165.1:n.2685dup
ENST00000650372.1:c.*342dup MANE Select	ENSP00000497931.1:n.*342dup
ENST00000263817.6:c.*342dup	ENSP00000263817.6:n.*342dup
NM_003742.2:c.*342dup	NP_003733.2:n.*342dup
XM_006712817.2:c.*342dup	XP_006712880.1:n.*342dup
XM_011512077.1:c.*342dup	XP_011510379.1:n.*342dup
XM_011512078.1:c.*296dup	XP_011510380.1:n.*296dup
XM_011512079.1:c.*342dup	XP_011510381.1:n.*342dup
XM_011512081.1:c.*342dup	XP_011510383.1:n.*342dup
NM_003742.4:c.*342dup MANE Select	NP_003733.2:n.*342dup
XM_006712817.3:c.*342dup	XP_006712880.1:n.*342dup
XM_011512077.2:c.*342dup	XP_011510379.1:n.*342dup
XM_011512078.2:c.*296dup	XP_011510380.1:n.*296dup
XM_011512081.2:c.*342dup	XP_011510383.1:n.*342dup
XM_017005165.1:c.3867+1377dup	XP_016860654.1:n.3867+1377dup
XM_017005166.1:c.*342dup	XP_016860655.1:n.*342dup
XM_017005167.1:c.*342dup	XP_016860656.1:n.*342dup