Canonical Allele Identifier: CA1951296

Gene: ABCB11

Linked Data

• ClinVar Variation Id: 1296463
• ClinVar RCV Id: RCV001719681
• dbSNP Id: rs201279156
• ExAC: 2:169801501 T / TTTG
• gnomAD v2: 2-169801501-T-TTTG
• gnomAD v3: 2-168944991-T-TTTG
• gnomAD v4: 2-168944991-T-TTTG
• MyVariant Identifiers: chr2:g.169801501_169801502insTTG (hg19) ; chr2:g.168944991_168944992insTTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168944993_168944994insGTT , CM000664.2:g.168944993_168944994insGTT	GRCh38
NC_000002.11:g.169801503_169801504insGTT , CM000664.1:g.169801503_169801504insGTT	GRCh37
NC_000002.10:g.169509749_169509750insGTT	NCBI36
NG_007374.1:g.91332_91333insCAA
NG_007374.2:g.91405_91406insCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649448.1:c.661-31_661-30insCAA	ENSP00000497165.1:n.661-31_661-30insCAA
ENST00000650372.1:c.2344-31_2344-30insCAA MANE Select	ENSP00000497931.1:n.2344-31_2344-30insCAA
ENST00000263817.6:c.2344-31_2344-30insCAA	ENSP00000263817.6:n.2344-31_2344-30insCAA
ENST00000439188.1:c.1033-31_1033-30insCAA	ENSP00000416058.1:n.1033-31_1033-30insCAA
NM_003742.2:c.2344-31_2344-30insCAA	NP_003733.2:n.2344-31_2344-30insCAA
XM_006712817.2:c.2386-31_2386-30insCAA	XP_006712880.1:n.2386-31_2386-30insCAA
XM_011512077.1:c.2446-31_2446-30insCAA	XP_011510379.1:n.2446-31_2446-30insCAA
XM_011512078.1:c.2446-31_2446-30insCAA	XP_011510380.1:n.2446-31_2446-30insCAA
XM_011512079.1:c.2446-31_2446-30insCAA	XP_011510381.1:n.2446-31_2446-30insCAA
XM_011512080.1:c.2446-31_2446-30insCAA	XP_011510382.1:n.2446-31_2446-30insCAA
XM_011512081.1:c.670-31_670-30insCAA	XP_011510383.1:n.670-31_670-30insCAA
NM_003742.4:c.2344-31_2344-30insCAA MANE Select	NP_003733.2:n.2344-31_2344-30insCAA
XM_006712817.3:c.2386-31_2386-30insCAA	XP_006712880.1:n.2386-31_2386-30insCAA
XM_011512077.2:c.2446-31_2446-30insCAA	XP_011510379.1:n.2446-31_2446-30insCAA
XM_011512078.2:c.2446-31_2446-30insCAA	XP_011510380.1:n.2446-31_2446-30insCAA
XM_011512080.2:c.2446-31_2446-30insCAA	XP_011510382.1:n.2446-31_2446-30insCAA
XM_011512081.2:c.670-31_670-30insCAA	XP_011510383.1:n.670-31_670-30insCAA
XM_017005165.1:c.2446-31_2446-30insCAA	XP_016860654.1:n.2446-31_2446-30insCAA
XM_017005166.1:c.1675-31_1675-30insCAA	XP_016860655.1:n.1675-31_1675-30insCAA
XM_017005167.1:c.1129-31_1129-30insCAA	XP_016860656.1:n.1129-31_1129-30insCAA