Canonical Allele Identifier: CA2573979000

Gene: ASPM

Linked Data

• gnomAD v4: 1-197090202-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090206del , CM000663.2:g.197090206del	GRCh38
NC_000001.10:g.197059336del , CM000663.1:g.197059336del	GRCh37
NC_000001.9:g.195325959del	NCBI36
NG_015867.1:g.61492del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3109del
ENST00000367409.9:c.9822del MANE Select	ENSP00000356379.4:p.Lys3274AsnfsTer3
ENST00000680265.1:c.10044del	ENSP00000505384.1:p.Lys3348AsnfsTer3
ENST00000680710.1:c.9798del	ENSP00000506676.1:p.Lys3266AsnfsTer3
ENST00000294732.11:c.5067del	ENSP00000294732.7:p.Lys1689AsnfsTer3
ENST00000367408.5:c.2817del	ENSP00000356378.1:p.Lys939AsnfsTer3
ENST00000367409.8:c.9822del	ENSP00000356379.4:p.Lys3274AsnfsTer3
ENST00000612785.1:c.3780del	ENSP00000479244.1:p.Lys1260AsnfsTer3
NM_001206846.1:c.5067del	NP_001193775.1:p.Lys1689AsnfsTer3
NM_018136.4:c.9822del	NP_060606.3:p.Lys3274AsnfsTer3
NM_018136.5:c.9822del MANE Select	NP_060606.3:p.Lys3274AsnfsTer3
NM_001206846.2:c.5067del	NP_001193775.1:p.Lys1689AsnfsTer3