Canonical Allele Identifier: CA2586967843

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197104028_197104034del , CM000663.2:g.197104028_197104034del	GRCh38
NC_000001.10:g.197073158_197073164del , CM000663.1:g.197073158_197073164del	GRCh37
NC_000001.9:g.195339781_195339787del	NCBI36
NG_015867.1:g.47663_47669del

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.2108-7868_2108-7862del
ENST00000367409.9:c.5219_5225del MANE Select	ENSP00000356379.4:p.Arg1740ThrfsTer7
ENST00000680265.1:c.5219_5225del	ENSP00000505384.1:p.Arg1740ThrfsTer7
ENST00000680710.1:c.5219_5225del	ENSP00000506676.1:p.Arg1740ThrfsTer7
ENST00000294732.11:c.4066-7868_4066-7862del	ENSP00000294732.7:n.4066-7868_4066-7862de...
ENST00000367408.5:c.1816-7868_1816-7862del	ENSP00000356378.1:n.1816-7868_1816-7862de...
ENST00000367409.8:c.5219_5225del	ENSP00000356379.4:p.Arg1740ThrfsTer7
ENST00000612785.1:c.562-1385_562-1379del	ENSP00000479244.1:n.562-1385_562-1379del
NM_001206846.1:c.4066-7868_4066-7862del	NP_001193775.1:n.4066-7868_4066-7862del
NM_018136.4:c.5219_5225del	NP_060606.3:p.Arg1740ThrfsTer7
NM_018136.5:c.5219_5225del MANE Select	NP_060606.3:p.Arg1740ThrfsTer7
NM_001206846.2:c.4066-7868_4066-7862del	NP_001193775.1:n.4066-7868_4066-7862del