Canonical Allele Identifier: CA2574124302

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197104168del , CM000663.2:g.197104168del	GRCh38
NC_000001.10:g.197073298del , CM000663.1:g.197073298del	GRCh37
NC_000001.9:g.195339921del	NCBI36
NG_015867.1:g.47527del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-8004del
ENST00000367409.9:c.5083del MANE Select	ENSP00000356379.4:p.Arg1695ValfsTer7
ENST00000680265.1:c.5083del	ENSP00000505384.1:p.Arg1695ValfsTer7
ENST00000680710.1:c.5083del	ENSP00000506676.1:p.Arg1695ValfsTer7
ENST00000294732.11:c.4066-8004del	ENSP00000294732.7:n.4066-8004del
ENST00000367408.5:c.1816-8004del	ENSP00000356378.1:n.1816-8004del
ENST00000367409.8:c.5083del	ENSP00000356379.4:p.Arg1695ValfsTer7
ENST00000612785.1:c.562-1521del	ENSP00000479244.1:n.562-1521del
NM_001206846.1:c.4066-8004del	NP_001193775.1:n.4066-8004del
NM_018136.4:c.5083del	NP_060606.3:p.Arg1695ValfsTer7
NM_018136.5:c.5083del MANE Select	NP_060606.3:p.Arg1695ValfsTer7
NM_001206846.2:c.4066-8004del	NP_001193775.1:n.4066-8004del