Canonical Allele Identifier: CA1217930369

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197102635_197102639delinsGCTGT , CM000663.2:g.197102635_197102639delinsGCTGT	GRCh38
NC_000001.10:g.197071765_197071769delinsGCTGT , CM000663.1:g.197071765_197071769delinsGCTGT	GRCh37
NC_000001.9:g.195338388_195338392delinsGCTGT	NCBI36
NG_015867.1:g.49056_49060delinsACAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-6475_2108-6471delinsACAGC
ENST00000367409.9:c.6612_6616delinsACAGC MANE Select	ENSP00000356379.4:p.Arg2204=
ENST00000680265.1:c.6612_6616delinsACAGC	ENSP00000505384.1:p.Arg2204=
ENST00000680710.1:c.6612_6616delinsACAGC	ENSP00000506676.1:p.Arg2204=
ENST00000294732.11:c.4066-6475_4066-6471delinsACAGC	ENSP00000294732.7:n.4066-6475_4066-6471delinsACAGC
ENST00000367408.5:c.1816-6475_1816-6471delinsACAGC	ENSP00000356378.1:n.1816-6475_1816-6471delinsACAGC
ENST00000367409.8:c.6612_6616delinsACAGC	ENSP00000356379.4:p.Arg2204=
ENST00000612785.1:c.570_574delinsACAGC	ENSP00000479244.1:p.Arg190=
NM_001206846.1:c.4066-6475_4066-6471delinsACAGC	NP_001193775.1:n.4066-6475_4066-6471delinsACAGC
NM_018136.4:c.6612_6616delinsACAGC	NP_060606.3:p.Arg2204=
NM_018136.5:c.6612_6616delinsACAGC MANE Select	NP_060606.3:p.Arg2204=
NM_001206846.2:c.4066-6475_4066-6471delinsACAGC	NP_001193775.1:n.4066-6475_4066-6471delinsACAGC