Canonical Allele Identifier: CA1309543

Gene: ASPM

Linked Data

• ClinVar Variation Id: 694011
• ClinVar RCV Id: RCV001007666 ; RCV003128717
• dbSNP Id: rs770540184
• ExAC: 1:197071691 GTTTC / G
• gnomAD v2: 1-197071691-GTTTC-G
• gnomAD v3: 1-197102561-GTTTC-G
• gnomAD v4: 1-197102561-GTTTC-G
• MyVariant Identifiers: chr1:g.197071692_197071695del (hg19) ; chr1:g.197102562_197102565del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197102570_197102573del , CM000663.2:g.197102570_197102573del	GRCh38
NC_000001.10:g.197071700_197071703del , CM000663.1:g.197071700_197071703del	GRCh37
NC_000001.9:g.195338323_195338326del	NCBI36
NG_015867.1:g.49130_49133del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-6401_2108-6398del
ENST00000367409.9:c.6686_6689del MANE Select	ENSP00000356379.4:p.Arg2229ThrfsTer10
ENST00000680265.1:c.6686_6689del	ENSP00000505384.1:p.Arg2229ThrfsTer10
ENST00000680710.1:c.6686_6689del	ENSP00000506676.1:p.Arg2229ThrfsTer10
ENST00000294732.11:c.4066-6401_4066-6398del	ENSP00000294732.7:n.4066-6401_4066-6398del
ENST00000367408.5:c.1816-6401_1816-6398del	ENSP00000356378.1:n.1816-6401_1816-6398del
ENST00000367409.8:c.6686_6689del	ENSP00000356379.4:p.Arg2229ThrfsTer10
ENST00000612785.1:c.644_647del	ENSP00000479244.1:p.Arg215ThrfsTer10
NM_001206846.1:c.4066-6401_4066-6398del	NP_001193775.1:n.4066-6401_4066-6398del
NM_018136.4:c.6686_6689del	NP_060606.3:p.Arg2229ThrfsTer10
NM_018136.5:c.6686_6689del MANE Select	NP_060606.3:p.Arg2229ThrfsTer10
NM_001206846.2:c.4066-6401_4066-6398del	NP_001193775.1:n.4066-6401_4066-6398del