Canonical Allele Identifier: CA1309551

Gene: ASPM

Linked Data

• dbSNP Id: rs773986304
• ExAC: 1:197071734 GTTA / G
• gnomAD v2: 1-197071734-GTTA-G
• gnomAD v3: 1-197102604-GTTA-G
• gnomAD v4: 1-197102604-GTTA-G
• MyVariant Identifiers: chr1:g.197071735_197071737del (hg19) ; chr1:g.197102605_197102607del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197102607_197102609del , CM000663.2:g.197102607_197102609del	GRCh38
NC_000001.10:g.197071737_197071739del , CM000663.1:g.197071737_197071739del	GRCh37
NC_000001.9:g.195338360_195338362del	NCBI36
NG_015867.1:g.49088_49090del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-6443_2108-6441del
ENST00000367409.9:c.6644_6646del MANE Select	ENSP00000356379.4:p.Ile2215del
ENST00000680265.1:c.6644_6646del	ENSP00000505384.1:p.Ile2215del
ENST00000680710.1:c.6644_6646del	ENSP00000506676.1:p.Ile2215del
ENST00000294732.11:c.4066-6443_4066-6441del	ENSP00000294732.7:n.4066-6443_4066-6441del
ENST00000367408.5:c.1816-6443_1816-6441del	ENSP00000356378.1:n.1816-6443_1816-6441del
ENST00000367409.8:c.6644_6646del	ENSP00000356379.4:p.Ile2215del
ENST00000612785.1:c.602_604del	ENSP00000479244.1:p.Ile201del
NM_001206846.1:c.4066-6443_4066-6441del	NP_001193775.1:n.4066-6443_4066-6441del
NM_018136.4:c.6644_6646del	NP_060606.3:p.Ile2215del
NM_018136.5:c.6644_6646del MANE Select	NP_060606.3:p.Ile2215del
NM_001206846.2:c.4066-6443_4066-6441del	NP_001193775.1:n.4066-6443_4066-6441del