Canonical Allele Identifier: CA2549185942

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197104039_197104045del , CM000663.2:g.197104039_197104045del	GRCh38
NC_000001.10:g.197073169_197073175del , CM000663.1:g.197073169_197073175del	GRCh37
NC_000001.9:g.195339792_195339798del	NCBI36
NG_015867.1:g.47650_47656del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-7881_2108-7875del
ENST00000367409.9:c.5206_5212del MANE Select	ENSP00000356379.4:p.Gln1736LeufsTer11
ENST00000680265.1:c.5206_5212del	ENSP00000505384.1:p.Gln1736LeufsTer11
ENST00000680710.1:c.5206_5212del	ENSP00000506676.1:p.Gln1736LeufsTer11
ENST00000294732.11:c.4066-7881_4066-7875del	ENSP00000294732.7:n.4066-7881_4066-7875del
ENST00000367408.5:c.1816-7881_1816-7875del	ENSP00000356378.1:n.1816-7881_1816-7875del
ENST00000367409.8:c.5206_5212del	ENSP00000356379.4:p.Gln1736LeufsTer11
ENST00000612785.1:c.562-1398_562-1392del	ENSP00000479244.1:n.562-1398_562-1392del
NM_001206846.1:c.4066-7881_4066-7875del	NP_001193775.1:n.4066-7881_4066-7875del
NM_018136.4:c.5206_5212del	NP_060606.3:p.Gln1736LeufsTer11
NM_018136.5:c.5206_5212del MANE Select	NP_060606.3:p.Gln1736LeufsTer11
NM_001206846.2:c.4066-7881_4066-7875del	NP_001193775.1:n.4066-7881_4066-7875del