Canonical Allele Identifier: CA1217923600

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088410_197088413delinsACTG , CM000663.2:g.197088410_197088413delinsACTG	GRCh38
NC_000001.10:g.197057540_197057543delinsACTG , CM000663.1:g.197057540_197057543delinsACTG	GRCh37
NC_000001.9:g.195324163_195324166delinsACTG	NCBI36
NG_015867.1:g.63282_63285delinsCAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3291_3294delinsCAGT
ENST00000367409.9:c.10004_10007delinsCAGT MANE Select	ENSP00000356379.4:p.Ala3335=
ENST00000680265.1:c.10226_10229delinsCAGT	ENSP00000505384.1:p.Ala3409=
ENST00000680710.1:c.9980_9983delinsCAGT	ENSP00000506676.1:p.Ala3327=
ENST00000294732.11:c.5249_5252delinsCAGT	ENSP00000294732.7:p.Ala1750=
ENST00000367408.5:c.2999_3002delinsCAGT	ENSP00000356378.1:p.Ala1000=
ENST00000367409.8:c.10004_10007delinsCAGT	ENSP00000356379.4:p.Ala3335=
ENST00000612785.1:c.3962_3965delinsCAGT	ENSP00000479244.1:p.Ala1321=
NM_001206846.1:c.5249_5252delinsCAGT	NP_001193775.1:p.Ala1750=
NM_018136.4:c.10004_10007delinsCAGT	NP_060606.3:p.Ala3335=
NM_018136.5:c.10004_10007delinsCAGT MANE Select	NP_060606.3:p.Ala3335=
NM_001206846.2:c.5249_5252delinsCAGT	NP_001193775.1:p.Ala1750=