Canonical Allele Identifier: CA2649660859

Gene: ASPM

Linked Data

• gnomAD v4: 1-197090990-TATG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090993_197090995del , CM000663.2:g.197090993_197090995del	GRCh38
NC_000001.10:g.197060123_197060125del , CM000663.1:g.197060123_197060125del	GRCh37
NC_000001.9:g.195326746_195326748del	NCBI36
NG_015867.1:g.60702_60704del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2780_2782del
ENST00000367409.9:c.9493_9495del MANE Select	ENSP00000356379.4:p.His3165del
ENST00000680265.1:c.9715_9717del	ENSP00000505384.1:p.His3239del
ENST00000680710.1:c.9469_9471del	ENSP00000506676.1:p.His3157del
ENST00000294732.11:c.4738_4740del	ENSP00000294732.7:p.His1580del
ENST00000367408.5:c.2488_2490del	ENSP00000356378.1:p.His830del
ENST00000367409.8:c.9493_9495del	ENSP00000356379.4:p.His3165del
ENST00000612785.1:c.3451_3453del	ENSP00000479244.1:p.His1151del
NM_001206846.1:c.4738_4740del	NP_001193775.1:p.His1580del
NM_018136.4:c.9493_9495del	NP_060606.3:p.His3165del
NM_018136.5:c.9493_9495del MANE Select	NP_060606.3:p.His3165del
NM_001206846.2:c.4738_4740del	NP_001193775.1:p.His1580del