Canonical Allele Identifier: CA1217929980

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197101579_197101582delinsTAGA , CM000663.2:g.197101579_197101582delinsTAGA	GRCh38
NC_000001.10:g.197070709_197070712delinsTAGA , CM000663.1:g.197070709_197070712delinsTAGA	GRCh37
NC_000001.9:g.195337332_195337335delinsTAGA	NCBI36
NG_015867.1:g.50113_50116delinsTCTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.2108-5418_2108-5415delinsTCTA
ENST00000367409.9:c.7669_7672delinsTCTA MANE Select	ENSP00000356379.4:p.Ser2557=
ENST00000680265.1:c.7669_7672delinsTCTA	ENSP00000505384.1:p.Ser2557=
ENST00000680710.1:c.7669_7672delinsTCTA	ENSP00000506676.1:p.Ser2557=
ENST00000294732.11:c.4066-5418_4066-5415delinsTCTA	ENSP00000294732.7:n.4066-5418_4066-5415de...
ENST00000367408.5:c.1816-5418_1816-5415delinsTCTA	ENSP00000356378.1:n.1816-5418_1816-5415de...
ENST00000367409.8:c.7669_7672delinsTCTA	ENSP00000356379.4:p.Ser2557=
ENST00000612785.1:c.1627_1630delinsTCTA	ENSP00000479244.1:p.Ser543=
NM_001206846.1:c.4066-5418_4066-5415delinsTCTA	NP_001193775.1:n.4066-5418_4066-5415delin...
NM_018136.4:c.7669_7672delinsTCTA	NP_060606.3:p.Ser2557=
NM_018136.5:c.7669_7672delinsTCTA MANE Select	NP_060606.3:p.Ser2557=
NM_001206846.2:c.4066-5418_4066-5415delinsTCTA	NP_001193775.1:n.4066-5418_4066-5415delin...