Canonical Allele Identifier: CA528534959

Gene: ASPM

Linked Data

• ClinVar Variation Id: 2581671
• ClinVar RCV Id: RCV003330447
• dbSNP Id: rs1558328295
• gnomAD v2: 1-197070184-TTC-T
• gnomAD v4: 1-197101054-TTC-T
• MyVariant Identifiers: chr1:g.197070185_197070186del (hg19) ; chr1:g.197101055_197101056del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197101056_197101057del , CM000663.2:g.197101056_197101057del	GRCh38
NC_000001.10:g.197070186_197070187del , CM000663.1:g.197070186_197070187del	GRCh37
NC_000001.9:g.195336809_195336810del	NCBI36
NG_015867.1:g.50639_50640del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-4892_2108-4891del
ENST00000367409.9:c.8195_8196del MANE Select	ENSP00000356379.4:p.Arg2732LysfsTer18
ENST00000680265.1:c.8195_8196del	ENSP00000505384.1:p.Arg2732LysfsTer18
ENST00000680710.1:c.8195_8196del	ENSP00000506676.1:p.Arg2732LysfsTer18
ENST00000294732.11:c.4066-4892_4066-4891del	ENSP00000294732.7:n.4066-4892_4066-4891del
ENST00000367408.5:c.1816-4892_1816-4891del	ENSP00000356378.1:n.1816-4892_1816-4891del
ENST00000367409.8:c.8195_8196del	ENSP00000356379.4:p.Arg2732LysfsTer18
ENST00000612785.1:c.2153_2154del	ENSP00000479244.1:p.Arg718LysfsTer18
NM_001206846.1:c.4066-4892_4066-4891del	NP_001193775.1:n.4066-4892_4066-4891del
NM_018136.4:c.8195_8196del	NP_060606.3:p.Arg2732LysfsTer18
NM_018136.5:c.8195_8196del MANE Select	NP_060606.3:p.Arg2732LysfsTer18
NM_001206846.2:c.4066-4892_4066-4891del	NP_001193775.1:n.4066-4892_4066-4891del