Canonical Allele Identifier: CA2840738632

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197103909_197103910del , CM000663.2:g.197103909_197103910del	GRCh38
NC_000001.10:g.197073039_197073040del , CM000663.1:g.197073039_197073040del	GRCh37
NC_000001.9:g.195339662_195339663del	NCBI36
NG_015867.1:g.47785_47786del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-7746_2108-7745del
ENST00000367409.9:c.5341_5342del MANE Select	ENSP00000356379.4:p.Ile1781SerfsTer?
ENST00000680265.1:c.5341_5342del	ENSP00000505384.1:p.Ile1781SerfsTer?
ENST00000680710.1:c.5341_5342del	ENSP00000506676.1:p.Ile1781SerfsTer?
ENST00000294732.11:c.4066-7746_4066-7745del	ENSP00000294732.7:n.4066-7746_4066-7745del
ENST00000367408.5:c.1816-7746_1816-7745del	ENSP00000356378.1:n.1816-7746_1816-7745del
ENST00000367409.8:c.5341_5342del	ENSP00000356379.4:p.Ile1781SerfsTer?
ENST00000612785.1:c.562-1263_562-1262del	ENSP00000479244.1:n.562-1263_562-1262del
NM_001206846.1:c.4066-7746_4066-7745del	NP_001193775.1:n.4066-7746_4066-7745del
NM_018136.4:c.5341_5342del	NP_060606.3:p.Ile1781SerfsTer?
NM_018136.5:c.5341_5342del MANE Select	NP_060606.3:p.Ile1781SerfsTer?
NM_001206846.2:c.4066-7746_4066-7745del	NP_001193775.1:n.4066-7746_4066-7745del