Canonical Allele Identifier: CA2649662003

Gene: ASPM

Linked Data

• gnomAD v4: 1-197104866-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197104867del , CM000663.2:g.197104867del	GRCh38
NC_000001.10:g.197073997del , CM000663.1:g.197073997del	GRCh37
NC_000001.9:g.195340620del	NCBI36
NG_015867.1:g.46828del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-8703del
ENST00000367409.9:c.4384del MANE Select	ENSP00000356379.4:p.Ala1462LeufsTer?
ENST00000680265.1:c.4384del	ENSP00000505384.1:p.Ala1462LeufsTer?
ENST00000680710.1:c.4384del	ENSP00000506676.1:p.Ala1462LeufsTer?
ENST00000681879.1:c.4432del	ENSP00000505363.1:n.4432del
ENST00000294732.11:c.4066-8703del	ENSP00000294732.7:n.4066-8703del
ENST00000367408.5:c.1816-8703del	ENSP00000356378.1:n.1816-8703del
ENST00000367409.8:c.4384del	ENSP00000356379.4:p.Ala1462LeufsTer?
ENST00000612785.1:c.562-2220del	ENSP00000479244.1:n.562-2220del
NM_001206846.1:c.4066-8703del	NP_001193775.1:n.4066-8703del
NM_018136.4:c.4384del	NP_060606.3:p.Ala1462LeufsTer?
NM_018136.5:c.4384del MANE Select	NP_060606.3:p.Ala1462LeufsTer?
NM_001206846.2:c.4066-8703del	NP_001193775.1:n.4066-8703del