Canonical Allele Identifier: CA915941984

Gene: ASPM

Linked Data

• ClinVar Variation Id: 818033
• ClinVar RCV Id: RCV001009276
• dbSNP Id: rs1571630284

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197142841_197142843delinsAA , CM000663.2:g.197142841_197142843delinsAA	GRCh38
NC_000001.10:g.197111971_197111973delinsAA , CM000663.1:g.197111971_197111973delinsAA	GRCh37
NC_000001.9:g.195378594_195378596delinsAA	NCBI36
NG_015867.1:g.8852_8854delinsTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000367409.9:c.1409_1411delinsTT MANE Select	ENSP00000356379.4:p.Pro470LeufsTer?
ENST00000679766.1:n.1626_1628delinsTT
ENST00000680265.1:c.1409_1411delinsTT	ENSP00000505384.1:p.Pro470LeufsTer?
ENST00000680710.1:c.1409_1411delinsTT	ENSP00000506676.1:p.Pro470LeufsTer?
ENST00000681879.1:c.1409_1411delinsTT	ENSP00000505363.1:p.Pro470LeufsTer?
ENST00000294732.11:c.1409_1411delinsTT	ENSP00000294732.7:p.Pro470LeufsTer?
ENST00000367409.8:c.1409_1411delinsTT	ENSP00000356379.4:p.Pro470LeufsTer?
ENST00000612785.1:c.561+848_561+850delinsTT	ENSP00000479244.1:n.561+848_561+850delins...
NM_001206846.1:c.1409_1411delinsTT	NP_001193775.1:p.Pro470LeufsTer?
NM_018136.4:c.1409_1411delinsTT	NP_060606.3:p.Pro470LeufsTer?
NM_018136.5:c.1409_1411delinsTT MANE Select	NP_060606.3:p.Pro470LeufsTer?
NM_001206846.2:c.1409_1411delinsTT	NP_001193775.1:p.Pro470LeufsTer?