Canonical Allele Identifier: CA2586967850

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197142402_197142405del , CM000663.2:g.197142402_197142405del	GRCh38
NC_000001.10:g.197111532_197111535del , CM000663.1:g.197111532_197111535del	GRCh37
NC_000001.9:g.195378155_195378158del	NCBI36
NG_015867.1:g.9293_9296del

Transcript Alleles

HGVS	Amino-acid change
ENST00000367409.9:c.1850_1853del MANE Select	ENSP00000356379.4:p.Thr617LysfsTer3
ENST00000679766.1:n.2067_2070del
ENST00000680265.1:c.1850_1853del	ENSP00000505384.1:p.Thr617LysfsTer3
ENST00000680710.1:c.1850_1853del	ENSP00000506676.1:p.Thr617LysfsTer3
ENST00000681879.1:c.1850_1853del	ENSP00000505363.1:p.Thr617LysfsTer3
ENST00000294732.11:c.1850_1853del	ENSP00000294732.7:p.Thr617LysfsTer3
ENST00000367409.8:c.1850_1853del	ENSP00000356379.4:p.Thr617LysfsTer3
ENST00000612785.1:c.561+1289_561+1292del	ENSP00000479244.1:n.561+1289_561+1292del
NM_001206846.1:c.1850_1853del	NP_001193775.1:p.Thr617LysfsTer3
NM_018136.4:c.1850_1853del	NP_060606.3:p.Thr617LysfsTer3
NM_018136.5:c.1850_1853del MANE Select	NP_060606.3:p.Thr617LysfsTer3
NM_001206846.2:c.1850_1853del	NP_001193775.1:p.Thr617LysfsTer3