Canonical Allele Identifier: CA528280700

Gene: ASPM

Linked Data

• dbSNP Id: rs1329182964
• gnomAD v2: 1-197111102-TCAAA-T
• gnomAD v3: 1-197141972-TCAAA-T
• gnomAD v4: 1-197141972-TCAAA-T
• MyVariant Identifiers: chr1:g.197111103_197111106del (hg19) ; chr1:g.197141973_197141976del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197141979_197141982del , CM000663.2:g.197141979_197141982del	GRCh38
NC_000001.10:g.197111109_197111112del , CM000663.1:g.197111109_197111112del	GRCh37
NC_000001.9:g.195377732_195377735del	NCBI36
NG_015867.1:g.9719_9722del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367409.9:c.1921+355_1921+358del MANE Select	ENSP00000356379.4:n.1921+355_1921+358del
ENST00000679766.1:n.2138+355_2138+358del
ENST00000680265.1:c.1921+355_1921+358del	ENSP00000505384.1:n.1921+355_1921+358del
ENST00000680710.1:c.1921+355_1921+358del	ENSP00000506676.1:n.1921+355_1921+358del
ENST00000681879.1:c.1921+355_1921+358del	ENSP00000505363.1:n.1921+355_1921+358del
ENST00000294732.11:c.1921+355_1921+358del	ENSP00000294732.7:n.1921+355_1921+358del
ENST00000367409.8:c.1921+355_1921+358del	ENSP00000356379.4:n.1921+355_1921+358del
ENST00000612785.1:c.561+1715_561+1718del	ENSP00000479244.1:n.561+1715_561+1718del
NM_001206846.1:c.1921+355_1921+358del	NP_001193775.1:n.1921+355_1921+358del
NM_018136.4:c.1921+355_1921+358del	NP_060606.3:n.1921+355_1921+358del
NM_018136.5:c.1921+355_1921+358del MANE Select	NP_060606.3:n.1921+355_1921+358del
NM_001206846.2:c.1921+355_1921+358del	NP_001193775.1:n.1921+355_1921+358del