Canonical Allele Identifier: CA1217930482

Gene: ASPM

Linked Data

• ClinVar Variation Id: 1453107
• ClinVar RCV Id: RCV002037831
• dbSNP Id: rs1657248003

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197102944_197102945del , CM000663.2:g.197102944_197102945del	GRCh38
NC_000001.10:g.197072074_197072075del , CM000663.1:g.197072074_197072075del	GRCh37
NC_000001.9:g.195338697_195338698del	NCBI36
NG_015867.1:g.48751_48752del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-6780_2108-6779del
ENST00000367409.9:c.6307_6308del MANE Select	ENSP00000356379.4:p.Val2103LeufsTer2
ENST00000680265.1:c.6307_6308del	ENSP00000505384.1:p.Val2103LeufsTer2
ENST00000680710.1:c.6307_6308del	ENSP00000506676.1:p.Val2103LeufsTer2
ENST00000294732.11:c.4066-6780_4066-6779del	ENSP00000294732.7:n.4066-6780_4066-6779del
ENST00000367408.5:c.1816-6780_1816-6779del	ENSP00000356378.1:n.1816-6780_1816-6779del
ENST00000367409.8:c.6307_6308del	ENSP00000356379.4:p.Val2103LeufsTer2
ENST00000612785.1:c.562-297_562-296del	ENSP00000479244.1:n.562-297_562-296del
NM_001206846.1:c.4066-6780_4066-6779del	NP_001193775.1:n.4066-6780_4066-6779del
NM_018136.4:c.6307_6308del	NP_060606.3:p.Val2103LeufsTer2
NM_018136.5:c.6307_6308del MANE Select	NP_060606.3:p.Val2103LeufsTer2
NM_001206846.2:c.4066-6780_4066-6779del	NP_001193775.1:n.4066-6780_4066-6779del