Canonical Allele Identifier: CA1010891927

Gene: ASPM

Linked Data

• dbSNP Id: rs1657185949
• gnomAD v3: 1-197101601-TAA-T
• gnomAD v4: 1-197101601-TAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197101604_197101605del , CM000663.2:g.197101604_197101605del	GRCh38
NC_000001.10:g.197070734_197070735del , CM000663.1:g.197070734_197070735del	GRCh37
NC_000001.9:g.195337357_195337358del	NCBI36
NG_015867.1:g.50092_50093del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-5439_2108-5438del
ENST00000367409.9:c.7648_7649del MANE Select	ENSP00000356379.4:p.Leu2550LysfsTer18
ENST00000680265.1:c.7648_7649del	ENSP00000505384.1:p.Leu2550LysfsTer18
ENST00000680710.1:c.7648_7649del	ENSP00000506676.1:p.Leu2550LysfsTer18
ENST00000294732.11:c.4066-5439_4066-5438del	ENSP00000294732.7:n.4066-5439_4066-5438del
ENST00000367408.5:c.1816-5439_1816-5438del	ENSP00000356378.1:n.1816-5439_1816-5438del
ENST00000367409.8:c.7648_7649del	ENSP00000356379.4:p.Leu2550LysfsTer18
ENST00000612785.1:c.1606_1607del	ENSP00000479244.1:p.Leu536LysfsTer18
NM_001206846.1:c.4066-5439_4066-5438del	NP_001193775.1:n.4066-5439_4066-5438del
NM_018136.4:c.7648_7649del	NP_060606.3:p.Leu2550LysfsTer18
NM_018136.5:c.7648_7649del MANE Select	NP_060606.3:p.Leu2550LysfsTer18
NM_001206846.2:c.4066-5439_4066-5438del	NP_001193775.1:n.4066-5439_4066-5438del