Canonical Allele Identifier: CA2747243841

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197124162_197124163insCAC , CM000663.2:g.197124162_197124163insCAC	GRCh38
NC_000001.10:g.197093292_197093293insCAC , CM000663.1:g.197093292_197093293insCAC	GRCh37
NC_000001.9:g.195359915_195359916insCAC	NCBI36
NG_015867.1:g.27532_27533insGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.1379_1380insGTG
ENST00000367409.9:c.3337_3338insGTG MANE Select	ENSP00000356379.4:p.Ile1113delinsSerVal
ENST00000680112.1:n.1393_1394insGTG
ENST00000680265.1:c.3337_3338insGTG	ENSP00000505384.1:p.Ile1113delinsSerVal
ENST00000680710.1:c.3337_3338insGTG	ENSP00000506676.1:p.Ile1113delinsSerVal
ENST00000681879.1:c.3337_3338insGTG	ENSP00000505363.1:p.Ile1113delinsSerVal
ENST00000294732.11:c.3337_3338insGTG	ENSP00000294732.7:p.Ile1113delinsSerVal
ENST00000367408.5:c.1087_1088insGTG	ENSP00000356378.1:p.Ile363delinsSerVal
ENST00000367409.8:c.3337_3338insGTG	ENSP00000356379.4:p.Ile1113delinsSerVal
ENST00000612785.1:c.561+19528_561+19529insGTG	ENSP00000479244.1:n.561+19528_561+19529insGTG
NM_001206846.1:c.3337_3338insGTG	NP_001193775.1:p.Ile1113delinsSerVal
NM_018136.4:c.3337_3338insGTG	NP_060606.3:p.Ile1113delinsSerVal
NM_018136.5:c.3337_3338insGTG MANE Select	NP_060606.3:p.Ile1113delinsSerVal
NM_001206846.2:c.3337_3338insGTG	NP_001193775.1:p.Ile1113delinsSerVal