Canonical Allele Identifier: CA1309604

Gene: ASPM

Linked Data

• dbSNP Id: rs764040938
• ExAC: 1:197072050 TTCTAAC / T
• gnomAD v3: 1-197102920-TTCTAAC-T
• gnomAD v4: 1-197102920-TTCTAAC-T
• MyVariant Identifiers: chr1:g.197072051_197072056del (hg19) ; chr1:g.197102921_197102926del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197102926_197102931del , CM000663.2:g.197102926_197102931del	GRCh38
NC_000001.10:g.197072056_197072061del , CM000663.1:g.197072056_197072061del	GRCh37
NC_000001.9:g.195338679_195338684del	NCBI36
NG_015867.1:g.48769_48774del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-6762_2108-6757del
ENST00000367409.9:c.6325_6330del MANE Select	ENSP00000356379.4:p.Val2109_Arg2110del
ENST00000680265.1:c.6325_6330del	ENSP00000505384.1:p.Val2109_Arg2110del
ENST00000680710.1:c.6325_6330del	ENSP00000506676.1:p.Val2109_Arg2110del
ENST00000294732.11:c.4066-6762_4066-6757del	ENSP00000294732.7:n.4066-6762_4066-6757del
ENST00000367408.5:c.1816-6762_1816-6757del	ENSP00000356378.1:n.1816-6762_1816-6757del
ENST00000367409.8:c.6325_6330del	ENSP00000356379.4:p.Val2109_Arg2110del
ENST00000612785.1:c.562-279_562-274del	ENSP00000479244.1:n.562-279_562-274del
NM_001206846.1:c.4066-6762_4066-6757del	NP_001193775.1:n.4066-6762_4066-6757del
NM_018136.4:c.6325_6330del	NP_060606.3:p.Val2109_Arg2110del
NM_018136.5:c.6325_6330del MANE Select	NP_060606.3:p.Val2109_Arg2110del
NM_001206846.2:c.4066-6762_4066-6757del	NP_001193775.1:n.4066-6762_4066-6757del