Canonical Allele Identifier: CA342214

Gene: ASPM

Linked Data

• ClinVar Variation Id: 21551
• ClinVar RCV Id: RCV000020741 ; RCV000485588
• dbSNP Id: rs199422138
• gnomAD v4: 1-197143072-TA-T
• MyVariant Identifiers: chr1:g.197112203del (hg19) ; chr1:g.197143073del (hg38)
• PubMed: PMID:20301772

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197143073del , CM000663.2:g.197143073del	GRCh38
NC_000001.10:g.197112203del , CM000663.1:g.197112203del	GRCh37
NC_000001.9:g.195378826del	NCBI36
NG_015867.1:g.8622del

Transcript Alleles

HGVS	Amino-acid change
ENST00000367409.9:c.1179del MANE Select	ENSP00000356379.4:p.Asn394IlefsTer4
ENST00000679766.1:n.1396del
ENST00000680265.1:c.1179del	ENSP00000505384.1:p.Asn394IlefsTer4
ENST00000680710.1:c.1179del	ENSP00000506676.1:p.Asn394IlefsTer4
ENST00000681879.1:c.1179del	ENSP00000505363.1:p.Asn394IlefsTer4
ENST00000294732.11:c.1179del	ENSP00000294732.7:p.Asn394IlefsTer4
ENST00000367409.8:c.1179del	ENSP00000356379.4:p.Asn394IlefsTer4
ENST00000612785.1:c.561+618del	ENSP00000479244.1:n.561+618del
NM_001206846.1:c.1179del	NP_001193775.1:p.Asn394IlefsTer4
NM_018136.4:c.1179del	NP_060606.3:p.Asn394IlefsTer4
NM_018136.5:c.1179del MANE Select	NP_060606.3:p.Asn394IlefsTer4
NM_001206846.2:c.1179del	NP_001193775.1:p.Asn394IlefsTer4