Canonical Allele Identifier: CA537971263

Gene: ABCB11

Linked Data

• dbSNP Id: rs1435739330
• gnomAD v2: 2-169801489-C-CAAGA
• gnomAD v3: 2-168944979-C-CAAGA
• gnomAD v4: 2-168944979-C-CAAGA
• MyVariant Identifiers: chr2:g.169801489_169801490insAAGA (hg19) ; chr2:g.168944979_168944980insAAGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168944983_168944986dup , CM000664.2:g.168944983_168944986dup	GRCh38
NC_000002.11:g.169801493_169801496dup , CM000664.1:g.169801493_169801496dup	GRCh37
NC_000002.10:g.169509739_169509742dup	NCBI36
NG_007374.1:g.91341_91344dup
NG_007374.2:g.91414_91417dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.661-22_661-19dup	ENSP00000497165.1:n.661-22_661-19dup
ENST00000650372.1:c.2344-22_2344-19dup MANE Select	ENSP00000497931.1:n.2344-22_2344-19dup
ENST00000263817.6:c.2344-22_2344-19dup	ENSP00000263817.6:n.2344-22_2344-19dup
ENST00000439188.1:c.1033-22_1033-19dup	ENSP00000416058.1:n.1033-22_1033-19dup
NM_003742.2:c.2344-22_2344-19dup	NP_003733.2:n.2344-22_2344-19dup
XM_006712817.2:c.2386-22_2386-19dup	XP_006712880.1:n.2386-22_2386-19dup
XM_011512077.1:c.2446-22_2446-19dup	XP_011510379.1:n.2446-22_2446-19dup
XM_011512078.1:c.2446-22_2446-19dup	XP_011510380.1:n.2446-22_2446-19dup
XM_011512079.1:c.2446-22_2446-19dup	XP_011510381.1:n.2446-22_2446-19dup
XM_011512080.1:c.2446-22_2446-19dup	XP_011510382.1:n.2446-22_2446-19dup
XM_011512081.1:c.670-22_670-19dup	XP_011510383.1:n.670-22_670-19dup
NM_003742.4:c.2344-22_2344-19dup MANE Select	NP_003733.2:n.2344-22_2344-19dup
XM_006712817.3:c.2386-22_2386-19dup	XP_006712880.1:n.2386-22_2386-19dup
XM_011512077.2:c.2446-22_2446-19dup	XP_011510379.1:n.2446-22_2446-19dup
XM_011512078.2:c.2446-22_2446-19dup	XP_011510380.1:n.2446-22_2446-19dup
XM_011512080.2:c.2446-22_2446-19dup	XP_011510382.1:n.2446-22_2446-19dup
XM_011512081.2:c.670-22_670-19dup	XP_011510383.1:n.670-22_670-19dup
XM_017005165.1:c.2446-22_2446-19dup	XP_016860654.1:n.2446-22_2446-19dup
XM_017005166.1:c.1675-22_1675-19dup	XP_016860655.1:n.1675-22_1675-19dup
XM_017005167.1:c.1129-22_1129-19dup	XP_016860656.1:n.1129-22_1129-19dup