Canonical Allele Identifier: CA1217930785

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197103709_197103711delinsGCA , CM000663.2:g.197103709_197103711delinsGCA	GRCh38
NC_000001.10:g.197072839_197072841delinsGCA , CM000663.1:g.197072839_197072841delinsGCA	GRCh37
NC_000001.9:g.195339462_195339464delinsGCA	NCBI36
NG_015867.1:g.47984_47986delinsTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-7547_2108-7545delinsTGC
ENST00000367409.9:c.5540_5542delinsTGC MANE Select	ENSP00000356379.4:p.Val1847=
ENST00000680265.1:c.5540_5542delinsTGC	ENSP00000505384.1:p.Val1847=
ENST00000680710.1:c.5540_5542delinsTGC	ENSP00000506676.1:p.Val1847=
ENST00000294732.11:c.4066-7547_4066-7545delinsTGC	ENSP00000294732.7:n.4066-7547_4066-7545delinsTGC
ENST00000367408.5:c.1816-7547_1816-7545delinsTGC	ENSP00000356378.1:n.1816-7547_1816-7545delinsTGC
ENST00000367409.8:c.5540_5542delinsTGC	ENSP00000356379.4:p.Val1847=
ENST00000612785.1:c.562-1064_562-1062delinsTGC	ENSP00000479244.1:n.562-1064_562-1062delinsTGC
NM_001206846.1:c.4066-7547_4066-7545delinsTGC	NP_001193775.1:n.4066-7547_4066-7545delinsTGC
NM_018136.4:c.5540_5542delinsTGC	NP_060606.3:p.Val1847=
NM_018136.5:c.5540_5542delinsTGC MANE Select	NP_060606.3:p.Val1847=
NM_001206846.2:c.4066-7547_4066-7545delinsTGC	NP_001193775.1:n.4066-7547_4066-7545delinsTGC