Canonical Allele Identifier: CA528535011

Gene: ASPM

Linked Data

• dbSNP Id: rs1345366670
• gnomAD v2: 1-197073043-CAAT-C
• gnomAD v3: 1-197103913-CAAT-C
• gnomAD v4: 1-197103913-CAAT-C
• MyVariant Identifiers: chr1:g.197073044_197073046del (hg19) ; chr1:g.197103914_197103916del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197103917_197103919del , CM000663.2:g.197103917_197103919del	GRCh38
NC_000001.10:g.197073047_197073049del , CM000663.1:g.197073047_197073049del	GRCh37
NC_000001.9:g.195339670_195339672del	NCBI36
NG_015867.1:g.47779_47781del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-7752_2108-7750del
ENST00000367409.9:c.5335_5337del MANE Select	ENSP00000356379.4:p.Ile1779del
ENST00000680265.1:c.5335_5337del	ENSP00000505384.1:p.Ile1779del
ENST00000680710.1:c.5335_5337del	ENSP00000506676.1:p.Ile1779del
ENST00000294732.11:c.4066-7752_4066-7750del	ENSP00000294732.7:n.4066-7752_4066-7750del
ENST00000367408.5:c.1816-7752_1816-7750del	ENSP00000356378.1:n.1816-7752_1816-7750del
ENST00000367409.8:c.5335_5337del	ENSP00000356379.4:p.Ile1779del
ENST00000612785.1:c.562-1269_562-1267del	ENSP00000479244.1:n.562-1269_562-1267del
NM_001206846.1:c.4066-7752_4066-7750del	NP_001193775.1:n.4066-7752_4066-7750del
NM_018136.4:c.5335_5337del	NP_060606.3:p.Ile1779del
NM_018136.5:c.5335_5337del MANE Select	NP_060606.3:p.Ile1779del
NM_001206846.2:c.4066-7752_4066-7750del	NP_001193775.1:n.4066-7752_4066-7750del