Canonical Allele Identifier: CA528279089

Gene: ASPM

Linked Data

• dbSNP Id: rs1356254145
• gnomAD v2: 1-197057210-CAGAA-C
• gnomAD v3: 1-197088080-CAGAA-C
• gnomAD v4: 1-197088080-CAGAA-C
• MyVariant Identifiers: chr1:g.197057211_197057214del (hg19) ; chr1:g.197088081_197088084del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088086_197088089del , CM000663.2:g.197088086_197088089del	GRCh38
NC_000001.10:g.197057216_197057219del , CM000663.1:g.197057216_197057219del	GRCh37
NC_000001.9:g.195323839_195323842del	NCBI36
NG_015867.1:g.63611_63614del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3448+172_3448+175del
ENST00000367409.9:c.10161+172_10161+175del MANE Select	ENSP00000356379.4:n.10161+172_10161+175del
ENST00000680265.1:c.10383+172_10383+175del	ENSP00000505384.1:n.10383+172_10383+175del
ENST00000680710.1:c.10137+172_10137+175del	ENSP00000506676.1:n.10137+172_10137+175del
ENST00000294732.11:c.5406+172_5406+175del	ENSP00000294732.7:n.5406+172_5406+175del
ENST00000367408.5:c.3156+172_3156+175del	ENSP00000356378.1:n.3156+172_3156+175del
ENST00000367409.8:c.10161+172_10161+175del	ENSP00000356379.4:n.10161+172_10161+175del
NM_001206846.1:c.5406+172_5406+175del	NP_001193775.1:n.5406+172_5406+175del
NM_018136.4:c.10161+172_10161+175del	NP_060606.3:n.10161+172_10161+175del
NM_018136.5:c.10161+172_10161+175del MANE Select	NP_060606.3:n.10161+172_10161+175del
NM_001206846.2:c.5406+172_5406+175del	NP_001193775.1:n.5406+172_5406+175del