Canonical Allele Identifier: CA2573051456

Gene: ASPM

Linked Data

• ClinVar Variation Id: 1323530
• ClinVar RCV Id: RCV001784913
• dbSNP Id: rs2125114846
• gnomAD v4: 1-197143963-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197143968del , CM000663.2:g.197143968del	GRCh38
NC_000001.10:g.197113098del , CM000663.1:g.197113098del	GRCh37
NC_000001.9:g.195379721del	NCBI36
NG_015867.1:g.7731del

Transcript Alleles

HGVS	Amino-acid change
ENST00000367409.9:c.434del MANE Select	ENSP00000356379.4:p.Lys145ArgfsTer?
ENST00000679766.1:n.651del
ENST00000680265.1:c.434del	ENSP00000505384.1:p.Lys145ArgfsTer?
ENST00000680710.1:c.434del	ENSP00000506676.1:p.Lys145ArgfsTer?
ENST00000681879.1:c.434del	ENSP00000505363.1:p.Lys145ArgfsTer?
ENST00000294732.11:c.434del	ENSP00000294732.7:p.Lys145ArgfsTer?
ENST00000367409.8:c.434del	ENSP00000356379.4:p.Lys145ArgfsTer?
ENST00000612785.1:c.434del	ENSP00000479244.1:p.Lys145ArgfsTer?
NM_001206846.1:c.434del	NP_001193775.1:p.Lys145ArgfsTer?
NM_018136.4:c.434del	NP_060606.3:p.Lys145ArgfsTer?
NM_018136.5:c.434del MANE Select	NP_060606.3:p.Lys145ArgfsTer?
NM_001206846.2:c.434del	NP_001193775.1:p.Lys145ArgfsTer?