Canonical Allele Identifier: CA2574105281

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197142524_197142528del , CM000663.2:g.197142524_197142528del	GRCh38
NC_000001.10:g.197111654_197111658del , CM000663.1:g.197111654_197111658del	GRCh37
NC_000001.9:g.195378277_195378281del	NCBI36
NG_015867.1:g.9167_9171del

Transcript Alleles

HGVS	Amino-acid change
ENST00000367409.9:c.1724_1728del MANE Select	ENSP00000356379.4:p.Arg575LysfsTer?
ENST00000679766.1:n.1941_1945del
ENST00000680265.1:c.1724_1728del	ENSP00000505384.1:p.Arg575LysfsTer?
ENST00000680710.1:c.1724_1728del	ENSP00000506676.1:p.Arg575LysfsTer?
ENST00000681879.1:c.1724_1728del	ENSP00000505363.1:p.Arg575LysfsTer?
ENST00000294732.11:c.1724_1728del	ENSP00000294732.7:p.Arg575LysfsTer?
ENST00000367409.8:c.1724_1728del	ENSP00000356379.4:p.Arg575LysfsTer?
ENST00000612785.1:c.561+1163_561+1167del	ENSP00000479244.1:n.561+1163_561+1167del
NM_001206846.1:c.1724_1728del	NP_001193775.1:p.Arg575LysfsTer?
NM_018136.4:c.1724_1728del	NP_060606.3:p.Arg575LysfsTer?
NM_018136.5:c.1724_1728del MANE Select	NP_060606.3:p.Arg575LysfsTer?
NM_001206846.2:c.1724_1728del	NP_001193775.1:p.Arg575LysfsTer?