Canonical Allele Identifier: CA915941936

Gene: ASPM

Linked Data

• ClinVar Variation Id: 806300
• ClinVar RCV Id: RCV000994209
• dbSNP Id: rs1571599902
• gnomAD v4: 1-197102624-AAAGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197102626_197102629del , CM000663.2:g.197102626_197102629del	GRCh38
NC_000001.10:g.197071756_197071759del , CM000663.1:g.197071756_197071759del	GRCh37
NC_000001.9:g.195338379_195338382del	NCBI36
NG_015867.1:g.49067_49070del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-6464_2108-6461del
ENST00000367409.9:c.6623_6626del MANE Select	ENSP00000356379.4:p.Tyr2208LeufsTer4
ENST00000680265.1:c.6623_6626del	ENSP00000505384.1:p.Tyr2208LeufsTer4
ENST00000680710.1:c.6623_6626del	ENSP00000506676.1:p.Tyr2208LeufsTer4
ENST00000294732.11:c.4066-6464_4066-6461del	ENSP00000294732.7:n.4066-6464_4066-6461del
ENST00000367408.5:c.1816-6464_1816-6461del	ENSP00000356378.1:n.1816-6464_1816-6461del
ENST00000367409.8:c.6623_6626del	ENSP00000356379.4:p.Tyr2208LeufsTer4
ENST00000612785.1:c.581_584del	ENSP00000479244.1:p.Tyr194LeufsTer4
NM_001206846.1:c.4066-6464_4066-6461del	NP_001193775.1:n.4066-6464_4066-6461del
NM_018136.4:c.6623_6626del	NP_060606.3:p.Tyr2208LeufsTer4
NM_018136.5:c.6623_6626del MANE Select	NP_060606.3:p.Tyr2208LeufsTer4
NM_001206846.2:c.4066-6464_4066-6461del	NP_001193775.1:n.4066-6464_4066-6461del