Canonical Allele Identifier: CA1039023973

Gene: ABCB11

Linked Data

• dbSNP Id: rs1691388604
• gnomAD v3: 2-168927936-A-AAATATAATCT
• gnomAD v4: 2-168927936-A-AAATATAATCT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168927937_168927946dup , CM000664.2:g.168927937_168927946dup	GRCh38
NC_000002.11:g.169784447_169784456dup , CM000664.1:g.169784447_169784456dup	GRCh37
NC_000002.10:g.169492693_169492702dup	NCBI36
NG_007374.1:g.108378_108387dup
NG_007374.2:g.108451_108460dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.1789-584_1789-575dup	ENSP00000497165.1:n.1789-584_1789-575dup
ENST00000650372.1:c.3412-584_3412-575dup MANE Select	ENSP00000497931.1:n.3412-584_3412-575dup
ENST00000263817.6:c.3412-584_3412-575dup	ENSP00000263817.6:n.3412-584_3412-575dup
ENST00000439188.1:c.2101-656_2101-647dup	ENSP00000416058.1:n.2101-656_2101-647dup
NM_003742.2:c.3412-584_3412-575dup	NP_003733.2:n.3412-584_3412-575dup
XM_006712817.2:c.3454-584_3454-575dup	XP_006712880.1:n.3454-584_3454-575dup
XM_011512077.1:c.3514-584_3514-575dup	XP_011510379.1:n.3514-584_3514-575dup
XM_011512078.1:c.3514-584_3514-575dup	XP_011510380.1:n.3514-584_3514-575dup
XM_011512079.1:c.3514-584_3514-575dup	XP_011510381.1:n.3514-584_3514-575dup
XM_011512081.1:c.1738-584_1738-575dup	XP_011510383.1:n.1738-584_1738-575dup
NM_003742.4:c.3412-584_3412-575dup MANE Select	NP_003733.2:n.3412-584_3412-575dup
XM_006712817.3:c.3454-584_3454-575dup	XP_006712880.1:n.3454-584_3454-575dup
XM_011512077.2:c.3514-584_3514-575dup	XP_011510379.1:n.3514-584_3514-575dup
XM_011512078.2:c.3514-584_3514-575dup	XP_011510380.1:n.3514-584_3514-575dup
XM_011512081.2:c.1738-584_1738-575dup	XP_011510383.1:n.1738-584_1738-575dup
XM_017005165.1:c.3514-584_3514-575dup	XP_016860654.1:n.3514-584_3514-575dup
XM_017005166.1:c.2743-584_2743-575dup	XP_016860655.1:n.2743-584_2743-575dup
XM_017005167.1:c.2197-584_2197-575dup	XP_016860656.1:n.2197-584_2197-575dup