Canonical Allele Identifier: CA2573332530

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197102937_197102949del , CM000663.2:g.197102937_197102949del	GRCh38
NC_000001.10:g.197072067_197072079del , CM000663.1:g.197072067_197072079del	GRCh37
NC_000001.9:g.195338690_195338702del	NCBI36
NG_015867.1:g.48747_48759del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-6784_2108-6772del
ENST00000367409.9:c.6303_6315del MANE Select	ENSP00000356379.4:p.Ser2102ValfsTer29
ENST00000680265.1:c.6303_6315del	ENSP00000505384.1:p.Ser2102ValfsTer29
ENST00000680710.1:c.6303_6315del	ENSP00000506676.1:p.Ser2102ValfsTer29
ENST00000294732.11:c.4066-6784_4066-6772del	ENSP00000294732.7:n.4066-6784_4066-6772del
ENST00000367408.5:c.1816-6784_1816-6772del	ENSP00000356378.1:n.1816-6784_1816-6772del
ENST00000367409.8:c.6303_6315del	ENSP00000356379.4:p.Ser2102ValfsTer29
ENST00000612785.1:c.562-301_562-289del	ENSP00000479244.1:n.562-301_562-289del
NM_001206846.1:c.4066-6784_4066-6772del	NP_001193775.1:n.4066-6784_4066-6772del
NM_018136.4:c.6303_6315del	NP_060606.3:p.Ser2102ValfsTer29
NM_018136.5:c.6303_6315del MANE Select	NP_060606.3:p.Ser2102ValfsTer29
NM_001206846.2:c.4066-6784_4066-6772del	NP_001193775.1:n.4066-6784_4066-6772del