Canonical Allele Identifier: CA645372483

Gene: ASPM

Linked Data

• ClinVar Variation Id: 434418
• ClinVar RCV Id: RCV000501645
• dbSNP Id: rs1553227645
• MyVariant Identifiers: chr1:g.197111581_197111584del (hg19) ; chr1:g.197142451_197142454del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197142451_197142454del , CM000663.2:g.197142451_197142454del	GRCh38
NC_000001.10:g.197111581_197111584del , CM000663.1:g.197111581_197111584del	GRCh37
NC_000001.9:g.195378204_195378207del	NCBI36
NG_015867.1:g.9241_9244del

Transcript Alleles

HGVS	Amino-acid change
ENST00000367409.9:c.1798_1801del MANE Select	ENSP00000356379.4:p.Lys600GlufsTer20
ENST00000679766.1:n.2015_2018del
ENST00000680265.1:c.1798_1801del	ENSP00000505384.1:p.Lys600GlufsTer20
ENST00000680710.1:c.1798_1801del	ENSP00000506676.1:p.Lys600GlufsTer20
ENST00000681879.1:c.1798_1801del	ENSP00000505363.1:p.Lys600GlufsTer20
ENST00000294732.11:c.1798_1801del	ENSP00000294732.7:p.Lys600GlufsTer20
ENST00000367409.8:c.1798_1801del	ENSP00000356379.4:p.Lys600GlufsTer20
ENST00000612785.1:c.561+1237_561+1240del	ENSP00000479244.1:n.561+1237_561+1240del
NM_001206846.1:c.1798_1801del	NP_001193775.1:p.Lys600GlufsTer20
NM_018136.4:c.1798_1801del	NP_060606.3:p.Lys600GlufsTer20
NM_018136.5:c.1798_1801del MANE Select	NP_060606.3:p.Lys600GlufsTer20
NM_001206846.2:c.1798_1801del	NP_001193775.1:p.Lys600GlufsTer20