Canonical Allele Identifier: CA2649661740

Gene: ASPM

Linked Data

• gnomAD v4: 1-197103809-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197103811del , CM000663.2:g.197103811del	GRCh38
NC_000001.10:g.197072941del , CM000663.1:g.197072941del	GRCh37
NC_000001.9:g.195339564del	NCBI36
NG_015867.1:g.47885del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-7646del
ENST00000367409.9:c.5441del MANE Select	ENSP00000356379.4:p.Gly1814ValfsTer7
ENST00000680265.1:c.5441del	ENSP00000505384.1:p.Gly1814ValfsTer7
ENST00000680710.1:c.5441del	ENSP00000506676.1:p.Gly1814ValfsTer7
ENST00000294732.11:c.4066-7646del	ENSP00000294732.7:n.4066-7646del
ENST00000367408.5:c.1816-7646del	ENSP00000356378.1:n.1816-7646del
ENST00000367409.8:c.5441del	ENSP00000356379.4:p.Gly1814ValfsTer7
ENST00000612785.1:c.562-1163del	ENSP00000479244.1:n.562-1163del
NM_001206846.1:c.4066-7646del	NP_001193775.1:n.4066-7646del
NM_018136.4:c.5441del	NP_060606.3:p.Gly1814ValfsTer7
NM_018136.5:c.5441del MANE Select	NP_060606.3:p.Gly1814ValfsTer7
NM_001206846.2:c.4066-7646del	NP_001193775.1:n.4066-7646del