Canonical Allele Identifier: CA1139656468

Gene: ASPM

Linked Data

• ClinVar Variation Id: 987074
• ClinVar RCV Id: RCV001268299
• dbSNP Id: rs1658666393

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197143447_197143448del , CM000663.2:g.197143447_197143448del	GRCh38
NC_000001.10:g.197112577_197112578del , CM000663.1:g.197112577_197112578del	GRCh37
NC_000001.9:g.195379200_195379201del	NCBI36
NG_015867.1:g.8247_8248del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367409.9:c.804_805del MANE Select	ENSP00000356379.4:p.Lys268AsnfsTer4
ENST00000679766.1:n.1021_1022del
ENST00000680265.1:c.804_805del	ENSP00000505384.1:p.Lys268AsnfsTer4
ENST00000680710.1:c.804_805del	ENSP00000506676.1:p.Lys268AsnfsTer4
ENST00000681879.1:c.804_805del	ENSP00000505363.1:p.Lys268AsnfsTer4
ENST00000294732.11:c.804_805del	ENSP00000294732.7:p.Lys268AsnfsTer4
ENST00000367409.8:c.804_805del	ENSP00000356379.4:p.Lys268AsnfsTer4
ENST00000612785.1:c.561+243_561+244del	ENSP00000479244.1:n.561+243_561+244del
NM_001206846.1:c.804_805del	NP_001193775.1:p.Lys268AsnfsTer4
NM_018136.4:c.804_805del	NP_060606.3:p.Lys268AsnfsTer4
NM_018136.5:c.804_805del MANE Select	NP_060606.3:p.Lys268AsnfsTer4
NM_001206846.2:c.804_805del	NP_001193775.1:p.Lys268AsnfsTer4