Canonical Allele Identifier: CA1217926650

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197093005_197093013delinsGTGCTTTCA , CM000663.2:g.197093005_197093013delinsGTGCTTTCA	GRCh38
NC_000001.10:g.197062135_197062143delinsGTGCTTTCA , CM000663.1:g.197062135_197062143delinsGTGCTTTCA	GRCh37
NC_000001.9:g.195328758_195328766delinsGTGCTTTCA	NCBI36
NG_015867.1:g.58682_58690delinsTGAAAGCAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.2581+39_2581+47delinsTGAAAGCAC
ENST00000367409.9:c.9294+39_9294+47delinsTGAAAGCAC MANE Select	ENSP00000356379.4:n.9294+39_9294+47delinsTGAAAGCAC
ENST00000680265.1:c.9516+39_9516+47delinsTGAAAGCAC	ENSP00000505384.1:n.9516+39_9516+47delinsTGAAAGCAC
ENST00000680710.1:c.9294+39_9294+47delinsTGAAAGCAC	ENSP00000506676.1:n.9294+39_9294+47delinsTGAAAGCAC
ENST00000294732.11:c.4539+39_4539+47delinsTGAAAGCAC	ENSP00000294732.7:n.4539+39_4539+47delinsTGAAAGCAC
ENST00000367408.5:c.2289+39_2289+47delinsTGAAAGCAC	ENSP00000356378.1:n.2289+39_2289+47delinsTGAAAGCAC
ENST00000367409.8:c.9294+39_9294+47delinsTGAAAGCAC	ENSP00000356379.4:n.9294+39_9294+47delinsTGAAAGCAC
ENST00000612785.1:c.3252+39_3252+47delinsTGAAAGCAC	ENSP00000479244.1:n.3252+39_3252+47delinsTGAAAGCAC
NM_001206846.1:c.4539+39_4539+47delinsTGAAAGCAC	NP_001193775.1:n.4539+39_4539+47delinsTGAAAGCAC
NM_018136.4:c.9294+39_9294+47delinsTGAAAGCAC	NP_060606.3:n.9294+39_9294+47delinsTGAAAGCAC
NM_018136.5:c.9294+39_9294+47delinsTGAAAGCAC MANE Select	NP_060606.3:n.9294+39_9294+47delinsTGAAAGCAC
NM_001206846.2:c.4539+39_4539+47delinsTGAAAGCAC	NP_001193775.1:n.4539+39_4539+47delinsTGAAAGCAC