Canonical Allele Identifier: CA1217926713

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197093177_197093180delinsAAGC , CM000663.2:g.197093177_197093180delinsAAGC	GRCh38
NC_000001.10:g.197062307_197062310delinsAAGC , CM000663.1:g.197062307_197062310delinsAAGC	GRCh37
NC_000001.9:g.195328930_195328933delinsAAGC	NCBI36
NG_015867.1:g.58515_58518delinsGCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2453_2456delinsGCTT
ENST00000367409.9:c.9166_9169delinsGCTT MANE Select	ENSP00000356379.4:p.Ala3056=
ENST00000680265.1:c.9388_9391delinsGCTT	ENSP00000505384.1:p.Ala3130=
ENST00000680710.1:c.9166_9169delinsGCTT	ENSP00000506676.1:p.Ala3056=
ENST00000294732.11:c.4411_4414delinsGCTT	ENSP00000294732.7:p.Ala1471=
ENST00000367408.5:c.2161_2164delinsGCTT	ENSP00000356378.1:p.Ala721=
ENST00000367409.8:c.9166_9169delinsGCTT	ENSP00000356379.4:p.Ala3056=
ENST00000612785.1:c.3124_3127delinsGCTT	ENSP00000479244.1:p.Ala1042=
NM_001206846.1:c.4411_4414delinsGCTT	NP_001193775.1:p.Ala1471=
NM_018136.4:c.9166_9169delinsGCTT	NP_060606.3:p.Ala3056=
NM_018136.5:c.9166_9169delinsGCTT MANE Select	NP_060606.3:p.Ala3056=
NM_001206846.2:c.4411_4414delinsGCTT	NP_001193775.1:p.Ala1471=