Canonical Allele Identifier: CA2747239629

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197093192del , CM000663.2:g.197093192del	GRCh38
NC_000001.10:g.197062322del , CM000663.1:g.197062322del	GRCh37
NC_000001.9:g.195328945del	NCBI36
NG_015867.1:g.58503del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2441del
ENST00000367409.9:c.9154del MANE Select	ENSP00000356379.4:p.Gln3052ArgfsTer6
ENST00000680265.1:c.9376del	ENSP00000505384.1:p.Gln3126ArgfsTer6
ENST00000680710.1:c.9154del	ENSP00000506676.1:p.Gln3052ArgfsTer6
ENST00000294732.11:c.4399del	ENSP00000294732.7:p.Gln1467ArgfsTer6
ENST00000367408.5:c.2149del	ENSP00000356378.1:p.Gln717ArgfsTer6
ENST00000367409.8:c.9154del	ENSP00000356379.4:p.Gln3052ArgfsTer6
ENST00000612785.1:c.3112del	ENSP00000479244.1:p.Gln1038ArgfsTer6
NM_001206846.1:c.4399del	NP_001193775.1:p.Gln1467ArgfsTer6
NM_018136.4:c.9154del	NP_060606.3:p.Gln3052ArgfsTer6
NM_018136.5:c.9154del MANE Select	NP_060606.3:p.Gln3052ArgfsTer6
NM_001206846.2:c.4399del	NP_001193775.1:p.Gln1467ArgfsTer6