Canonical Allele Identifier: CA1217930354

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197102601_197102604delinsTTTG , CM000663.2:g.197102601_197102604delinsTTTG	GRCh38
NC_000001.10:g.197071731_197071734delinsTTTG , CM000663.1:g.197071731_197071734delinsTTTG	GRCh37
NC_000001.9:g.195338354_195338357delinsTTTG	NCBI36
NG_015867.1:g.49091_49094delinsCAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-6440_2108-6437delinsCAAA
ENST00000367409.9:c.6647_6650delinsCAAA MANE Select	ENSP00000356379.4:p.Thr2216=
ENST00000680265.1:c.6647_6650delinsCAAA	ENSP00000505384.1:p.Thr2216=
ENST00000680710.1:c.6647_6650delinsCAAA	ENSP00000506676.1:p.Thr2216=
ENST00000294732.11:c.4066-6440_4066-6437delinsCAAA	ENSP00000294732.7:n.4066-6440_4066-6437delinsCAAA
ENST00000367408.5:c.1816-6440_1816-6437delinsCAAA	ENSP00000356378.1:n.1816-6440_1816-6437delinsCAAA
ENST00000367409.8:c.6647_6650delinsCAAA	ENSP00000356379.4:p.Thr2216=
ENST00000612785.1:c.605_608delinsCAAA	ENSP00000479244.1:p.Thr202=
NM_001206846.1:c.4066-6440_4066-6437delinsCAAA	NP_001193775.1:n.4066-6440_4066-6437delinsCAAA
NM_018136.4:c.6647_6650delinsCAAA	NP_060606.3:p.Thr2216=
NM_018136.5:c.6647_6650delinsCAAA MANE Select	NP_060606.3:p.Thr2216=
NM_001206846.2:c.4066-6440_4066-6437delinsCAAA	NP_001193775.1:n.4066-6440_4066-6437delinsCAAA