Canonical Allele Identifier: CA528535223

Gene: ASPM

Linked Data

• dbSNP Id: rs1557965333
• gnomAD v2: 1-197111922-GGTT-G
• gnomAD v3: 1-197142792-GGTT-G
• gnomAD v4: 1-197142792-GGTT-G
• MyVariant Identifiers: chr1:g.197111923_197111925del (hg19) ; chr1:g.197142793_197142795del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197142796_197142798del , CM000663.2:g.197142796_197142798del	GRCh38
NC_000001.10:g.197111926_197111928del , CM000663.1:g.197111926_197111928del	GRCh37
NC_000001.9:g.195378549_195378551del	NCBI36
NG_015867.1:g.8900_8902del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367409.9:c.1457_1459del MANE Select	ENSP00000356379.4:p.Gln486del
ENST00000679766.1:n.1674_1676del
ENST00000680265.1:c.1457_1459del	ENSP00000505384.1:p.Gln486del
ENST00000680710.1:c.1457_1459del	ENSP00000506676.1:p.Gln486del
ENST00000681879.1:c.1457_1459del	ENSP00000505363.1:p.Gln486del
ENST00000294732.11:c.1457_1459del	ENSP00000294732.7:p.Gln486del
ENST00000367409.8:c.1457_1459del	ENSP00000356379.4:p.Gln486del
ENST00000612785.1:c.561+896_561+898del	ENSP00000479244.1:n.561+896_561+898del
NM_001206846.1:c.1457_1459del	NP_001193775.1:p.Gln486del
NM_018136.4:c.1457_1459del	NP_060606.3:p.Gln486del
NM_018136.5:c.1457_1459del MANE Select	NP_060606.3:p.Gln486del
NM_001206846.2:c.1457_1459del	NP_001193775.1:p.Gln486del