Canonical Allele Identifier: CA1010892385

Gene: ASPM

Linked Data

• dbSNP Id: rs1657235289
• gnomAD v3: 1-197102635-GCTGT-G
• gnomAD v4: 1-197102635-GCTGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197102640_197102643del , CM000663.2:g.197102640_197102643del	GRCh38
NC_000001.10:g.197071770_197071773del , CM000663.1:g.197071770_197071773del	GRCh37
NC_000001.9:g.195338393_195338396del	NCBI36
NG_015867.1:g.49056_49059del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-6475_2108-6472del
ENST00000367409.9:c.6612_6615del MANE Select	ENSP00000356379.4:p.Arg2204SerfsTer8
ENST00000680265.1:c.6612_6615del	ENSP00000505384.1:p.Arg2204SerfsTer8
ENST00000680710.1:c.6612_6615del	ENSP00000506676.1:p.Arg2204SerfsTer8
ENST00000294732.11:c.4066-6475_4066-6472del	ENSP00000294732.7:n.4066-6475_4066-6472del
ENST00000367408.5:c.1816-6475_1816-6472del	ENSP00000356378.1:n.1816-6475_1816-6472del
ENST00000367409.8:c.6612_6615del	ENSP00000356379.4:p.Arg2204SerfsTer8
ENST00000612785.1:c.570_573del	ENSP00000479244.1:p.Arg190SerfsTer8
NM_001206846.1:c.4066-6475_4066-6472del	NP_001193775.1:n.4066-6475_4066-6472del
NM_018136.4:c.6612_6615del	NP_060606.3:p.Arg2204SerfsTer8
NM_018136.5:c.6612_6615del MANE Select	NP_060606.3:p.Arg2204SerfsTer8
NM_001206846.2:c.4066-6475_4066-6472del	NP_001193775.1:n.4066-6475_4066-6472del