Canonical Allele Identifier: CA1217930380

Gene: ASPM

Linked Data

• dbSNP Id: rs1657236344

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197102660_197102663del , CM000663.2:g.197102660_197102663del	GRCh38
NC_000001.10:g.197071790_197071793del , CM000663.1:g.197071790_197071793del	GRCh37
NC_000001.9:g.195338413_195338416del	NCBI36
NG_015867.1:g.49035_49038del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-6496_2108-6493del
ENST00000367409.9:c.6591_6594del MANE Select	ENSP00000356379.4:p.Ser2198ThrfsTer14
ENST00000680265.1:c.6591_6594del	ENSP00000505384.1:p.Ser2198ThrfsTer14
ENST00000680710.1:c.6591_6594del	ENSP00000506676.1:p.Ser2198ThrfsTer14
ENST00000294732.11:c.4066-6496_4066-6493del	ENSP00000294732.7:n.4066-6496_4066-6493del
ENST00000367408.5:c.1816-6496_1816-6493del	ENSP00000356378.1:n.1816-6496_1816-6493del
ENST00000367409.8:c.6591_6594del	ENSP00000356379.4:p.Ser2198ThrfsTer14
ENST00000612785.1:c.562-13_562-10del	ENSP00000479244.1:n.562-13_562-10del
NM_001206846.1:c.4066-6496_4066-6493del	NP_001193775.1:n.4066-6496_4066-6493del
NM_018136.4:c.6591_6594del	NP_060606.3:p.Ser2198ThrfsTer14
NM_018136.5:c.6591_6594del MANE Select	NP_060606.3:p.Ser2198ThrfsTer14
NM_001206846.2:c.4066-6496_4066-6493del	NP_001193775.1:n.4066-6496_4066-6493del