Canonical Allele Identifier: CA1310683

Gene: ASPM

Linked Data

• ClinVar Variation Id: 3064892
• ClinVar RCV Id: RCV003989969
• dbSNP Id: rs770377142
• ExAC: 1:197111780 ATTAT / A
• gnomAD v2: 1-197111780-ATTAT-A
• gnomAD v4: 1-197142650-ATTAT-A
• MyVariant Identifiers: chr1:g.197111781_197111784del (hg19) ; chr1:g.197142651_197142654del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197142656_197142659del , CM000663.2:g.197142656_197142659del	GRCh38
NC_000001.10:g.197111786_197111789del , CM000663.1:g.197111786_197111789del	GRCh37
NC_000001.9:g.195378409_195378412del	NCBI36
NG_015867.1:g.9041_9044del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367409.9:c.1598_1601del MANE Select	ENSP00000356379.4:p.Asn533IlefsTer15
ENST00000679766.1:n.1815_1818del
ENST00000680265.1:c.1598_1601del	ENSP00000505384.1:p.Asn533IlefsTer15
ENST00000680710.1:c.1598_1601del	ENSP00000506676.1:p.Asn533IlefsTer15
ENST00000681879.1:c.1598_1601del	ENSP00000505363.1:p.Asn533IlefsTer15
ENST00000294732.11:c.1598_1601del	ENSP00000294732.7:p.Asn533IlefsTer15
ENST00000367409.8:c.1598_1601del	ENSP00000356379.4:p.Asn533IlefsTer15
ENST00000612785.1:c.561+1037_561+1040del	ENSP00000479244.1:n.561+1037_561+1040del
NM_001206846.1:c.1598_1601del	NP_001193775.1:p.Asn533IlefsTer15
NM_018136.4:c.1598_1601del	NP_060606.3:p.Asn533IlefsTer15
NM_018136.5:c.1598_1601del MANE Select	NP_060606.3:p.Asn533IlefsTer15
NM_001206846.2:c.1598_1601del	NP_001193775.1:p.Asn533IlefsTer15