Canonical Allele Identifier: CA2649661679

Gene: ASPM

Linked Data

• gnomAD v4: 1-197102618-CTTAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197102620_197102623del , CM000663.2:g.197102620_197102623del	GRCh38
NC_000001.10:g.197071750_197071753del , CM000663.1:g.197071750_197071753del	GRCh37
NC_000001.9:g.195338373_195338376del	NCBI36
NG_015867.1:g.49073_49076del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-6458_2108-6455del
ENST00000367409.9:c.6629_6632del MANE Select	ENSP00000356379.4:p.Asn2210SerfsTer2
ENST00000680265.1:c.6629_6632del	ENSP00000505384.1:p.Asn2210SerfsTer2
ENST00000680710.1:c.6629_6632del	ENSP00000506676.1:p.Asn2210SerfsTer2
ENST00000294732.11:c.4066-6458_4066-6455del	ENSP00000294732.7:n.4066-6458_4066-6455del
ENST00000367408.5:c.1816-6458_1816-6455del	ENSP00000356378.1:n.1816-6458_1816-6455del
ENST00000367409.8:c.6629_6632del	ENSP00000356379.4:p.Asn2210SerfsTer2
ENST00000612785.1:c.587_590del	ENSP00000479244.1:p.Asn196SerfsTer2
NM_001206846.1:c.4066-6458_4066-6455del	NP_001193775.1:n.4066-6458_4066-6455del
NM_018136.4:c.6629_6632del	NP_060606.3:p.Asn2210SerfsTer2
NM_018136.5:c.6629_6632del MANE Select	NP_060606.3:p.Asn2210SerfsTer2
NM_001206846.2:c.4066-6458_4066-6455del	NP_001193775.1:n.4066-6458_4066-6455del