Canonical Allele Identifier: CA528535005

Gene: ASPM

Linked Data

• dbSNP Id: rs1294438630
• gnomAD v2: 1-197072697-CTAA-C
• gnomAD v4: 1-197103567-CTAA-C
• MyVariant Identifiers: chr1:g.197072698_197072700del (hg19) ; chr1:g.197103568_197103570del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197103569_197103571del , CM000663.2:g.197103569_197103571del	GRCh38
NC_000001.10:g.197072699_197072701del , CM000663.1:g.197072699_197072701del	GRCh37
NC_000001.9:g.195339322_195339324del	NCBI36
NG_015867.1:g.48125_48127del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-7406_2108-7404del
ENST00000367409.9:c.5681_5683del MANE Select	ENSP00000356379.4:p.Ile1894del
ENST00000680265.1:c.5681_5683del	ENSP00000505384.1:p.Ile1894del
ENST00000680710.1:c.5681_5683del	ENSP00000506676.1:p.Ile1894del
ENST00000294732.11:c.4066-7406_4066-7404del	ENSP00000294732.7:n.4066-7406_4066-7404del
ENST00000367408.5:c.1816-7406_1816-7404del	ENSP00000356378.1:n.1816-7406_1816-7404del
ENST00000367409.8:c.5681_5683del	ENSP00000356379.4:p.Ile1894del
ENST00000612785.1:c.562-923_562-921del	ENSP00000479244.1:n.562-923_562-921del
NM_001206846.1:c.4066-7406_4066-7404del	NP_001193775.1:n.4066-7406_4066-7404del
NM_018136.4:c.5681_5683del	NP_060606.3:p.Ile1894del
NM_018136.5:c.5681_5683del MANE Select	NP_060606.3:p.Ile1894del
NM_001206846.2:c.4066-7406_4066-7404del	NP_001193775.1:n.4066-7406_4066-7404del