Canonical Allele Identifier: CA1309253

Gene: ASPM

Linked Data

• ClinVar Variation Id: 2997229
• ClinVar RCV Id: RCV003851348
• dbSNP Id: rs762516973
• ExAC: 1:197070116 TCTAA / T
• gnomAD v2: 1-197070116-TCTAA-T
• gnomAD v3: 1-197100986-TCTAA-T
• gnomAD v4: 1-197100986-TCTAA-T
• MyVariant Identifiers: chr1:g.197070117_197070120del (hg19) ; chr1:g.197100988_197100991del (hg38) ; chr1:g.197100987_197100990del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197100989_197100992del , CM000663.2:g.197100989_197100992del	GRCh38
NC_000001.10:g.197070119_197070122del , CM000663.1:g.197070119_197070122del	GRCh37
NC_000001.9:g.195336742_195336745del	NCBI36
NG_015867.1:g.50705_50708del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-4826_2108-4823del
ENST00000367409.9:c.8261_8264del MANE Select	ENSP00000356379.4:p.Val2754AspfsTer4
ENST00000680265.1:c.8261_8264del	ENSP00000505384.1:p.Val2754AspfsTer4
ENST00000680710.1:c.8261_8264del	ENSP00000506676.1:p.Val2754AspfsTer4
ENST00000294732.11:c.4066-4826_4066-4823del	ENSP00000294732.7:n.4066-4826_4066-4823del
ENST00000367408.5:c.1816-4826_1816-4823del	ENSP00000356378.1:n.1816-4826_1816-4823del
ENST00000367409.8:c.8261_8264del	ENSP00000356379.4:p.Val2754AspfsTer4
ENST00000612785.1:c.2219_2222del	ENSP00000479244.1:p.Val740AspfsTer4
NM_001206846.1:c.4066-4826_4066-4823del	NP_001193775.1:n.4066-4826_4066-4823del
NM_018136.4:c.8261_8264del	NP_060606.3:p.Val2754AspfsTer4
NM_018136.5:c.8261_8264del MANE Select	NP_060606.3:p.Val2754AspfsTer4
NM_001206846.2:c.4066-4826_4066-4823del	NP_001193775.1:n.4066-4826_4066-4823del