Canonical Allele Identifier: CA1217929707

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197100837_197100838delinsCA , CM000663.2:g.197100837_197100838delinsCA	GRCh38
NC_000001.10:g.197069967_197069968delinsCA , CM000663.1:g.197069967_197069968delinsCA	GRCh37
NC_000001.9:g.195336590_195336591delinsCA	NCBI36
NG_015867.1:g.50857_50858delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-4674_2108-4673delinsTG
ENST00000367409.9:c.8413_8414delinsTG MANE Select	ENSP00000356379.4:p.Cys2805=
ENST00000680265.1:c.8413_8414delinsTG	ENSP00000505384.1:p.Cys2805=
ENST00000680710.1:c.8413_8414delinsTG	ENSP00000506676.1:p.Cys2805=
ENST00000294732.11:c.4066-4674_4066-4673delinsTG	ENSP00000294732.7:n.4066-4674_4066-4673delinsTG
ENST00000367408.5:c.1816-4674_1816-4673delinsTG	ENSP00000356378.1:n.1816-4674_1816-4673delinsTG
ENST00000367409.8:c.8413_8414delinsTG	ENSP00000356379.4:p.Cys2805=
ENST00000612785.1:c.2371_2372delinsTG	ENSP00000479244.1:p.Cys791=
NM_001206846.1:c.4066-4674_4066-4673delinsTG	NP_001193775.1:n.4066-4674_4066-4673delinsTG
NM_018136.4:c.8413_8414delinsTG	NP_060606.3:p.Cys2805=
NM_018136.5:c.8413_8414delinsTG MANE Select	NP_060606.3:p.Cys2805=
NM_001206846.2:c.4066-4674_4066-4673delinsTG	NP_001193775.1:n.4066-4674_4066-4673delinsTG