Canonical Allele Identifier: CA33099985

Gene: RABGAP1L

Linked Data

• dbSNP Id: rs550839728
• gnomAD v3: 1-174323184-C-CAT
• gnomAD v4: 1-174323184-C-CAT
• MyVariant Identifiers: chr1:g.174292322_174292323insAT (hg19) ; chr1:g.174323184_174323185insAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.174323191_174323192dup , CM000663.2:g.174323191_174323192dup	GRCh38
NC_000001.10:g.174292329_174292330dup , CM000663.1:g.174292329_174292330dup	GRCh37
NC_000001.9:g.172558952_172558953dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681986.1:c.1465+18064_1465+18065dup MANE Select	ENSP00000507884.1:n.1465+18064_1465+18065dup
ENST00000251507.8:c.1465+18064_1465+18065dup	ENSP00000251507.4:n.1465+18064_1465+18065dup
ENST00000357444.10:c.1354+18064_1354+18065dup	ENSP00000350027.6:n.1354+18064_1354+18065dup
ENST00000367690.5:c.406+18064_406+18065dup	ENSP00000489605.1:n.406+18064_406+18065dup
ENST00000457696.1:c.1501+18064_1501+18065dup	ENSP00000403136.1:n.1501+18064_1501+18065dup
NM_014857.4:c.1465+18064_1465+18065dup	NP_055672.3:n.1465+18064_1465+18065dup
XM_005245680.1:c.1465+18064_1465+18065dup	XP_005245737.1:n.1465+18064_1465+18065dup
XM_005245681.1:c.1354+18064_1354+18065dup	XP_005245738.1:n.1354+18064_1354+18065dup
XM_006711693.1:c.1465+18064_1465+18065dup	XP_006711756.1:n.1465+18064_1465+18065dup
XM_011510223.1:c.1465+18064_1465+18065dup	XP_011508525.1:n.1465+18064_1465+18065dup
XR_922003.1:n.1672+18064_1672+18065dup
XR_922004.1:n.1672+18064_1672+18065dup
NM_001366445.1:c.1354+18064_1354+18065dup	NP_001353374.1:n.1354+18064_1354+18065dup
NM_001366446.1:c.1465+18064_1465+18065dup MANE Select	NP_001353375.1:n.1465+18064_1465+18065dup
NM_001366447.1:c.1354+18064_1354+18065dup	NP_001353376.1:n.1354+18064_1354+18065dup
NM_001366448.1:c.1465+18064_1465+18065dup	NP_001353377.1:n.1465+18064_1465+18065dup
NM_001366449.1:c.406+18064_406+18065dup	NP_001353378.1:n.406+18064_406+18065dup
NR_158982.1:n.1636+18064_1636+18065dup
XM_005245681.2:c.1354+18064_1354+18065dup	XP_005245738.1:n.1354+18064_1354+18065dup
XM_011510223.2:c.1465+18064_1465+18065dup	XP_011508525.1:n.1465+18064_1465+18065dup
NM_014857.5:c.1465+18064_1465+18065dup	NP_055672.3:n.1465+18064_1465+18065dup