Canonical Allele Identifier: CA2649660858

Gene: ASPM

Linked Data

• gnomAD v4: 1-197090934-AGCCCTATTTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090937_197090946del , CM000663.2:g.197090937_197090946del	GRCh38
NC_000001.10:g.197060067_197060076del , CM000663.1:g.197060067_197060076del	GRCh37
NC_000001.9:g.195326690_195326699del	NCBI36
NG_015867.1:g.60751_60760del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2829_2838del
ENST00000367409.9:c.9542_9551del MANE Select	ENSP00000356379.4:p.Arg3181LeufsTer4
ENST00000680265.1:c.9764_9773del	ENSP00000505384.1:p.Arg3255LeufsTer4
ENST00000680710.1:c.9518_9527del	ENSP00000506676.1:p.Arg3173LeufsTer4
ENST00000294732.11:c.4787_4796del	ENSP00000294732.7:p.Arg1596LeufsTer4
ENST00000367408.5:c.2537_2546del	ENSP00000356378.1:p.Arg846LeufsTer4
ENST00000367409.8:c.9542_9551del	ENSP00000356379.4:p.Arg3181LeufsTer4
ENST00000612785.1:c.3500_3509del	ENSP00000479244.1:p.Arg1167LeufsTer4
NM_001206846.1:c.4787_4796del	NP_001193775.1:p.Arg1596LeufsTer4
NM_018136.4:c.9542_9551del	NP_060606.3:p.Arg3181LeufsTer4
NM_018136.5:c.9542_9551del MANE Select	NP_060606.3:p.Arg3181LeufsTer4
NM_001206846.2:c.4787_4796del	NP_001193775.1:p.Arg1596LeufsTer4