Canonical Allele Identifier: CA1309231

Gene: ASPM

Linked Data

• dbSNP Id: rs777000251
• ExAC: 1:197069977 CAGA / C
• gnomAD v2: 1-197069977-CAGA-C
• gnomAD v4: 1-197100847-CAGA-C
• MyVariant Identifiers: chr1:g.197069978_197069980del (hg19) ; chr1:g.197100848_197100850del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197100850_197100852del , CM000663.2:g.197100850_197100852del	GRCh38
NC_000001.10:g.197069980_197069982del , CM000663.1:g.197069980_197069982del	GRCh37
NC_000001.9:g.195336603_195336605del	NCBI36
NG_015867.1:g.50845_50847del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-4686_2108-4684del
ENST00000367409.9:c.8401_8403del MANE Select	ENSP00000356379.4:p.Ser2801del
ENST00000680265.1:c.8401_8403del	ENSP00000505384.1:p.Ser2801del
ENST00000680710.1:c.8401_8403del	ENSP00000506676.1:p.Ser2801del
ENST00000294732.11:c.4066-4686_4066-4684del	ENSP00000294732.7:n.4066-4686_4066-4684del
ENST00000367408.5:c.1816-4686_1816-4684del	ENSP00000356378.1:n.1816-4686_1816-4684del
ENST00000367409.8:c.8401_8403del	ENSP00000356379.4:p.Ser2801del
ENST00000612785.1:c.2359_2361del	ENSP00000479244.1:p.Ser787del
NM_001206846.1:c.4066-4686_4066-4684del	NP_001193775.1:n.4066-4686_4066-4684del
NM_018136.4:c.8401_8403del	NP_060606.3:p.Ser2801del
NM_018136.5:c.8401_8403del MANE Select	NP_060606.3:p.Ser2801del
NM_001206846.2:c.4066-4686_4066-4684del	NP_001193775.1:n.4066-4686_4066-4684del