Canonical Allele Identifier: CA1309198

Gene: ASPM

Linked Data

• dbSNP Id: rs754019386
• ExAC: 1:197069815 ATCT / A
• gnomAD v2: 1-197069815-ATCT-A
• gnomAD v3: 1-197100685-ATCT-A
• gnomAD v4: 1-197100685-ATCT-A
• MyVariant Identifiers: chr1:g.197069816_197069818del (hg19) ; chr1:g.197100687_197100689del (hg38) ; chr1:g.197100686_197100688del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197100689_197100691del , CM000663.2:g.197100689_197100691del	GRCh38
NC_000001.10:g.197069819_197069821del , CM000663.1:g.197069819_197069821del	GRCh37
NC_000001.9:g.195336442_195336444del	NCBI36
NG_015867.1:g.51007_51009del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-4524_2108-4522del
ENST00000367409.9:c.8563_8565del MANE Select	ENSP00000356379.4:p.Arg2855del
ENST00000680265.1:c.8563_8565del	ENSP00000505384.1:p.Arg2855del
ENST00000680710.1:c.8563_8565del	ENSP00000506676.1:p.Arg2855del
ENST00000294732.11:c.4066-4524_4066-4522del	ENSP00000294732.7:n.4066-4524_4066-4522del
ENST00000367408.5:c.1816-4524_1816-4522del	ENSP00000356378.1:n.1816-4524_1816-4522del
ENST00000367409.8:c.8563_8565del	ENSP00000356379.4:p.Arg2855del
ENST00000612785.1:c.2521_2523del	ENSP00000479244.1:p.Arg841del
NM_001206846.1:c.4066-4524_4066-4522del	NP_001193775.1:n.4066-4524_4066-4522del
NM_018136.4:c.8563_8565del	NP_060606.3:p.Arg2855del
NM_018136.5:c.8563_8565del MANE Select	NP_060606.3:p.Arg2855del
NM_001206846.2:c.4066-4524_4066-4522del	NP_001193775.1:n.4066-4524_4066-4522del