Canonical Allele Identifier: CA2586967835

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088404del , CM000663.2:g.197088404del	GRCh38
NC_000001.10:g.197057534del , CM000663.1:g.197057534del	GRCh37
NC_000001.9:g.195324157del	NCBI36
NG_015867.1:g.63291del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3300del
ENST00000367409.9:c.10013del MANE Select	ENSP00000356379.4:p.Asp3338ValfsTer2
ENST00000680265.1:c.10235del	ENSP00000505384.1:p.Asp3412ValfsTer2
ENST00000680710.1:c.9989del	ENSP00000506676.1:p.Asp3330ValfsTer2
ENST00000294732.11:c.5258del	ENSP00000294732.7:p.Asp1753ValfsTer2
ENST00000367408.5:c.3008del	ENSP00000356378.1:p.Asp1003ValfsTer2
ENST00000367409.8:c.10013del	ENSP00000356379.4:p.Asp3338ValfsTer2
ENST00000612785.1:c.3971del	ENSP00000479244.1:p.Asp1324ValfsTer2
NM_001206846.1:c.5258del	NP_001193775.1:p.Asp1753ValfsTer2
NM_018136.4:c.10013del	NP_060606.3:p.Asp3338ValfsTer2
NM_018136.5:c.10013del MANE Select	NP_060606.3:p.Asp3338ValfsTer2
NM_001206846.2:c.5258del	NP_001193775.1:p.Asp1753ValfsTer2