Canonical Allele Identifier: CA2649662001

Gene: ASPM

Linked Data

• ClinVar Variation Id: 2978160
• ClinVar RCV Id: RCV003836822
• gnomAD v4: 1-197104843-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197104845del , CM000663.2:g.197104845del	GRCh38
NC_000001.10:g.197073975del , CM000663.1:g.197073975del	GRCh37
NC_000001.9:g.195340598del	NCBI36
NG_015867.1:g.46851del

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.2108-8680del
ENST00000367409.9:c.4407del MANE Select	ENSP00000356379.4:p.Ile1470SerfsTer?
ENST00000680265.1:c.4407del	ENSP00000505384.1:p.Ile1470SerfsTer?
ENST00000680710.1:c.4407del	ENSP00000506676.1:p.Ile1470SerfsTer?
ENST00000681879.1:c.4455del	ENSP00000505363.1:n.4455del
ENST00000294732.11:c.4066-8680del	ENSP00000294732.7:n.4066-8680del
ENST00000367408.5:c.1816-8680del	ENSP00000356378.1:n.1816-8680del
ENST00000367409.8:c.4407del	ENSP00000356379.4:p.Ile1470SerfsTer?
ENST00000612785.1:c.562-2197del	ENSP00000479244.1:n.562-2197del
NM_001206846.1:c.4066-8680del	NP_001193775.1:n.4066-8680del
NM_018136.4:c.4407del	NP_060606.3:p.Ile1470SerfsTer?
NM_018136.5:c.4407del MANE Select	NP_060606.3:p.Ile1470SerfsTer?
NM_001206846.2:c.4066-8680del	NP_001193775.1:n.4066-8680del