Canonical Allele Identifier: CA1217930319

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197102500_197102501delinsTA , CM000663.2:g.197102500_197102501delinsTA	GRCh38
NC_000001.10:g.197071630_197071631delinsTA , CM000663.1:g.197071630_197071631delinsTA	GRCh37
NC_000001.9:g.195338253_195338254delinsTA	NCBI36
NG_015867.1:g.49194_49195delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-6337_2108-6336delinsTA
ENST00000367409.9:c.6750_6751delinsTA MANE Select	ENSP00000356379.4:p.Phe2250=
ENST00000680265.1:c.6750_6751delinsTA	ENSP00000505384.1:p.Phe2250=
ENST00000680710.1:c.6750_6751delinsTA	ENSP00000506676.1:p.Phe2250=
ENST00000294732.11:c.4066-6337_4066-6336delinsTA	ENSP00000294732.7:n.4066-6337_4066-6336delinsTA
ENST00000367408.5:c.1816-6337_1816-6336delinsTA	ENSP00000356378.1:n.1816-6337_1816-6336delinsTA
ENST00000367409.8:c.6750_6751delinsTA	ENSP00000356379.4:p.Phe2250=
ENST00000612785.1:c.708_709delinsTA	ENSP00000479244.1:p.Phe236=
NM_001206846.1:c.4066-6337_4066-6336delinsTA	NP_001193775.1:n.4066-6337_4066-6336delinsTA
NM_018136.4:c.6750_6751delinsTA	NP_060606.3:p.Phe2250=
NM_018136.5:c.6750_6751delinsTA MANE Select	NP_060606.3:p.Phe2250=
NM_001206846.2:c.4066-6337_4066-6336delinsTA	NP_001193775.1:n.4066-6337_4066-6336delinsTA