Canonical Allele Identifier: CA2838643808

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197143717del , CM000663.2:g.197143717del	GRCh38
NC_000001.10:g.197112847del , CM000663.1:g.197112847del	GRCh37
NC_000001.9:g.195379470del	NCBI36
NG_015867.1:g.7980del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367409.9:c.537del MANE Select	ENSP00000356379.4:p.Phe179LeufsTer22
ENST00000679766.1:n.754del
ENST00000680265.1:c.537del	ENSP00000505384.1:p.Phe179LeufsTer22
ENST00000680710.1:c.537del	ENSP00000506676.1:p.Phe179LeufsTer22
ENST00000681879.1:c.537del	ENSP00000505363.1:p.Phe179LeufsTer22
ENST00000294732.11:c.537del	ENSP00000294732.7:p.Phe179LeufsTer22
ENST00000367409.8:c.537del	ENSP00000356379.4:p.Phe179LeufsTer22
ENST00000612785.1:c.537del	ENSP00000479244.1:p.Phe179LeufsTer20
NM_001206846.1:c.537del	NP_001193775.1:p.Phe179LeufsTer22
NM_018136.4:c.537del	NP_060606.3:p.Phe179LeufsTer22
NM_018136.5:c.537del MANE Select	NP_060606.3:p.Phe179LeufsTer22
NM_001206846.2:c.537del	NP_001193775.1:p.Phe179LeufsTer22