Canonical Allele Identifier: CA2649661730

Gene: ASPM

Linked Data

• gnomAD v4: 1-197103626-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197103629del , CM000663.2:g.197103629del	GRCh38
NC_000001.10:g.197072759del , CM000663.1:g.197072759del	GRCh37
NC_000001.9:g.195339382del	NCBI36
NG_015867.1:g.48068del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-7463del
ENST00000367409.9:c.5624del MANE Select	ENSP00000356379.4:p.Lys1875ArgfsTer4
ENST00000680265.1:c.5624del	ENSP00000505384.1:p.Lys1875ArgfsTer4
ENST00000680710.1:c.5624del	ENSP00000506676.1:p.Lys1875ArgfsTer4
ENST00000294732.11:c.4066-7463del	ENSP00000294732.7:n.4066-7463del
ENST00000367408.5:c.1816-7463del	ENSP00000356378.1:n.1816-7463del
ENST00000367409.8:c.5624del	ENSP00000356379.4:p.Lys1875ArgfsTer4
ENST00000612785.1:c.562-980del	ENSP00000479244.1:n.562-980del
NM_001206846.1:c.4066-7463del	NP_001193775.1:n.4066-7463del
NM_018136.4:c.5624del	NP_060606.3:p.Lys1875ArgfsTer4
NM_018136.5:c.5624del MANE Select	NP_060606.3:p.Lys1875ArgfsTer4
NM_001206846.2:c.4066-7463del	NP_001193775.1:n.4066-7463del