Canonical Allele Identifier: CA342278

Gene: ASPM

Linked Data

• ClinVar Variation Id: 21613
• ClinVar RCV Id: RCV000020803 ; RCV002513151
• dbSNP Id: rs199422177
• ExAC: 1:197070188 TTC / T
• gnomAD v2: 1-197070188-TTC-T
• gnomAD v3: 1-197101058-TTC-T
• gnomAD v4: 1-197101058-TTC-T
• MyVariant Identifiers: chr1:g.197070190_197070191del (hg19) ; chr1:g.197070189_197070190del (hg19) ; chr1:g.197101060_197101061del (hg38) ; chr1:g.197101059_197101060del (hg38)
• PubMed: PMID:20301772

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197101060_197101061del , CM000663.2:g.197101060_197101061del	GRCh38
NC_000001.10:g.197070190_197070191del , CM000663.1:g.197070190_197070191del	GRCh37
NC_000001.9:g.195336813_195336814del	NCBI36
NG_015867.1:g.50635_50636del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-4896_2108-4895del
ENST00000367409.9:c.8191_8192del MANE Select	ENSP00000356379.4:p.Glu2731LysfsTer19
ENST00000680265.1:c.8191_8192del	ENSP00000505384.1:p.Glu2731LysfsTer19
ENST00000680710.1:c.8191_8192del	ENSP00000506676.1:p.Glu2731LysfsTer19
ENST00000294732.11:c.4066-4896_4066-4895del	ENSP00000294732.7:n.4066-4896_4066-4895del
ENST00000367408.5:c.1816-4896_1816-4895del	ENSP00000356378.1:n.1816-4896_1816-4895del
ENST00000367409.8:c.8191_8192del	ENSP00000356379.4:p.Glu2731LysfsTer19
ENST00000612785.1:c.2149_2150del	ENSP00000479244.1:p.Glu717LysfsTer19
NM_001206846.1:c.4066-4896_4066-4895del	NP_001193775.1:n.4066-4896_4066-4895del
NM_018136.4:c.8191_8192del	NP_060606.3:p.Glu2731LysfsTer19
NM_018136.5:c.8191_8192del MANE Select	NP_060606.3:p.Glu2731LysfsTer19
NM_001206846.2:c.4066-4896_4066-4895del	NP_001193775.1:n.4066-4896_4066-4895del