Canonical Allele Identifier: CA1309268

Gene: ASPM

Linked Data

• ClinVar Variation Id: 977866
• ClinVar RCV Id: RCV001255781
• dbSNP Id: rs770579201
• ExAC: 1:197070182 TTTTC / T
• gnomAD v2: 1-197070182-TTTTC-T
• gnomAD v3: 1-197101052-TTTTC-T
• gnomAD v4: 1-197101052-TTTTC-T
• MyVariant Identifiers: chr1:g.197070183_197070186del (hg19) ; chr1:g.197101053_197101056del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197101058_197101061del , CM000663.2:g.197101058_197101061del	GRCh38
NC_000001.10:g.197070188_197070191del , CM000663.1:g.197070188_197070191del	GRCh37
NC_000001.9:g.195336811_195336814del	NCBI36
NG_015867.1:g.50639_50642del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-4892_2108-4889del
ENST00000367409.9:c.8195_8198del MANE Select	ENSP00000356379.4:p.Arg2732LysfsTer4
ENST00000680265.1:c.8195_8198del	ENSP00000505384.1:p.Arg2732LysfsTer4
ENST00000680710.1:c.8195_8198del	ENSP00000506676.1:p.Arg2732LysfsTer4
ENST00000294732.11:c.4066-4892_4066-4889del	ENSP00000294732.7:n.4066-4892_4066-4889del
ENST00000367408.5:c.1816-4892_1816-4889del	ENSP00000356378.1:n.1816-4892_1816-4889del
ENST00000367409.8:c.8195_8198del	ENSP00000356379.4:p.Arg2732LysfsTer4
ENST00000612785.1:c.2153_2156del	ENSP00000479244.1:p.Arg718LysfsTer4
NM_001206846.1:c.4066-4892_4066-4889del	NP_001193775.1:n.4066-4892_4066-4889del
NM_018136.4:c.8195_8198del	NP_060606.3:p.Arg2732LysfsTer4
NM_018136.5:c.8195_8198del MANE Select	NP_060606.3:p.Arg2732LysfsTer4
NM_001206846.2:c.4066-4892_4066-4889del	NP_001193775.1:n.4066-4892_4066-4889del