Canonical Allele Identifier: CA271116

Gene: ASPM

Linked Data

• ClinVar Variation Id: 157887
• ClinVar RCV Id: RCV000145208
• dbSNP Id: rs587783277
• gnomAD v4: 1-197143447-CTT-C
• MyVariant Identifiers: chr1:g.197112578_197112579del (hg19) ; chr1:g.197143448_197143449del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197143450_197143451del , CM000663.2:g.197143450_197143451del	GRCh38
NC_000001.10:g.197112580_197112581del , CM000663.1:g.197112580_197112581del	GRCh37
NC_000001.9:g.195379203_195379204del	NCBI36
NG_015867.1:g.8246_8247del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367409.9:c.803_804del MANE Select	ENSP00000356379.4:p.Lys268SerfsTer4
ENST00000679766.1:n.1020_1021del
ENST00000680265.1:c.803_804del	ENSP00000505384.1:p.Lys268SerfsTer4
ENST00000680710.1:c.803_804del	ENSP00000506676.1:p.Lys268SerfsTer4
ENST00000681879.1:c.803_804del	ENSP00000505363.1:p.Lys268SerfsTer4
ENST00000294732.11:c.803_804del	ENSP00000294732.7:p.Lys268SerfsTer4
ENST00000367409.8:c.803_804del	ENSP00000356379.4:p.Lys268SerfsTer4
ENST00000612785.1:c.561+242_561+243del	ENSP00000479244.1:n.561+242_561+243del
NM_001206846.1:c.803_804del	NP_001193775.1:p.Lys268SerfsTer4
NM_018136.4:c.803_804del	NP_060606.3:p.Lys268SerfsTer4
NM_018136.5:c.803_804del MANE Select	NP_060606.3:p.Lys268SerfsTer4
NM_001206846.2:c.803_804del	NP_001193775.1:p.Lys268SerfsTer4