Canonical Allele Identifier: CA2580611527

Gene: ASPM

Linked Data

• ClinVar Variation Id: 1310151
• ClinVar RCV Id: RCV001757219
• dbSNP Id: rs2125113860

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197142653_197142655del , CM000663.2:g.197142653_197142655del	GRCh38
NC_000001.10:g.197111783_197111785del , CM000663.1:g.197111783_197111785del	GRCh37
NC_000001.9:g.195378406_195378408del	NCBI36
NG_015867.1:g.9043_9045del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367409.9:c.1600_1602del MANE Select	ENSP00000356379.4:p.Asn534del
ENST00000679766.1:n.1817_1819del
ENST00000680265.1:c.1600_1602del	ENSP00000505384.1:p.Asn534del
ENST00000680710.1:c.1600_1602del	ENSP00000506676.1:p.Asn534del
ENST00000681879.1:c.1600_1602del	ENSP00000505363.1:p.Asn534del
ENST00000294732.11:c.1600_1602del	ENSP00000294732.7:p.Asn534del
ENST00000367409.8:c.1600_1602del	ENSP00000356379.4:p.Asn534del
ENST00000612785.1:c.561+1039_561+1041del	ENSP00000479244.1:n.561+1039_561+1041del
NM_001206846.1:c.1600_1602del	NP_001193775.1:p.Asn534del
NM_018136.4:c.1600_1602del	NP_060606.3:p.Asn534del
NM_018136.5:c.1600_1602del MANE Select	NP_060606.3:p.Asn534del
NM_001206846.2:c.1600_1602del	NP_001193775.1:p.Asn534del