Canonical Allele Identifier: CA915941935

Gene: ASPM

Linked Data

• ClinVar Variation Id: 694722
• ClinVar RCV Id: RCV000856807
• dbSNP Id: rs1558328287
• gnomAD v3: 1-197101049-GTT-G
• gnomAD v4: 1-197101049-GTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197101054_197101055del , CM000663.2:g.197101054_197101055del	GRCh38
NC_000001.10:g.197070184_197070185del , CM000663.1:g.197070184_197070185del	GRCh37
NC_000001.9:g.195336807_195336808del	NCBI36
NG_015867.1:g.50644_50645del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-4887_2108-4886del
ENST00000367409.9:c.8200_8201del MANE Select	ENSP00000356379.4:p.Asn2734LeufsTer16
ENST00000680265.1:c.8200_8201del	ENSP00000505384.1:p.Asn2734LeufsTer16
ENST00000680710.1:c.8200_8201del	ENSP00000506676.1:p.Asn2734LeufsTer16
ENST00000294732.11:c.4066-4887_4066-4886del	ENSP00000294732.7:n.4066-4887_4066-4886del
ENST00000367408.5:c.1816-4887_1816-4886del	ENSP00000356378.1:n.1816-4887_1816-4886del
ENST00000367409.8:c.8200_8201del	ENSP00000356379.4:p.Asn2734LeufsTer16
ENST00000612785.1:c.2158_2159del	ENSP00000479244.1:p.Asn720LeufsTer16
NM_001206846.1:c.4066-4887_4066-4886del	NP_001193775.1:n.4066-4887_4066-4886del
NM_018136.4:c.8200_8201del	NP_060606.3:p.Asn2734LeufsTer16
NM_018136.5:c.8200_8201del MANE Select	NP_060606.3:p.Asn2734LeufsTer16
NM_001206846.2:c.4066-4887_4066-4886del	NP_001193775.1:n.4066-4887_4066-4886del