Canonical Allele Identifier: CA528535244

Gene: ASPM

Linked Data

• dbSNP Id: rs1362083491
• gnomAD v2: 1-197112819-ACT-A
• gnomAD v4: 1-197143689-ACT-A
• MyVariant Identifiers: chr1:g.197112820_197112821del (hg19) ; chr1:g.197143690_197143691del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197143692_197143693del , CM000663.2:g.197143692_197143693del	GRCh38
NC_000001.10:g.197112822_197112823del , CM000663.1:g.197112822_197112823del	GRCh37
NC_000001.9:g.195379445_195379446del	NCBI36
NG_015867.1:g.8004_8005del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367409.9:c.561_562del MANE Select	ENSP00000356379.4:p.Arg187SerfsTer2
ENST00000679766.1:n.778_779del
ENST00000680265.1:c.561_562del	ENSP00000505384.1:p.Arg187SerfsTer2
ENST00000680710.1:c.561_562del	ENSP00000506676.1:p.Arg187SerfsTer2
ENST00000681879.1:c.561_562del	ENSP00000505363.1:p.Arg187SerfsTer2
ENST00000294732.11:c.561_562del	ENSP00000294732.7:p.Arg187SerfsTer2
ENST00000367409.8:c.561_562del	ENSP00000356379.4:p.Arg187SerfsTer2
ENST00000612785.1:c.561_561+1del
NM_001206846.1:c.561_562del	NP_001193775.1:p.Arg187SerfsTer2
NM_018136.4:c.561_562del	NP_060606.3:p.Arg187SerfsTer2
NM_018136.5:c.561_562del MANE Select	NP_060606.3:p.Arg187SerfsTer2
NM_001206846.2:c.561_562del	NP_001193775.1:p.Arg187SerfsTer2