Canonical Allele Identifier: CA2740212242

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197143381_197143383del , CM000663.2:g.197143381_197143383del	GRCh38
NC_000001.10:g.197112511_197112513del , CM000663.1:g.197112511_197112513del	GRCh37
NC_000001.9:g.195379134_195379136del	NCBI36
NG_015867.1:g.8315_8317del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367409.9:c.872_874del MANE Select	ENSP00000356379.4:p.Gly291del
ENST00000679766.1:n.1089_1091del
ENST00000680265.1:c.872_874del	ENSP00000505384.1:p.Gly291del
ENST00000680710.1:c.872_874del	ENSP00000506676.1:p.Gly291del
ENST00000681879.1:c.872_874del	ENSP00000505363.1:p.Gly291del
ENST00000294732.11:c.872_874del	ENSP00000294732.7:p.Gly291del
ENST00000367409.8:c.872_874del	ENSP00000356379.4:p.Gly291del
ENST00000612785.1:c.561+311_561+313del	ENSP00000479244.1:n.561+311_561+313del
NM_001206846.1:c.872_874del	NP_001193775.1:p.Gly291del
NM_018136.4:c.872_874del	NP_060606.3:p.Gly291del
NM_018136.5:c.872_874del MANE Select	NP_060606.3:p.Gly291del
NM_001206846.2:c.872_874del	NP_001193775.1:p.Gly291del