Canonical Allele Identifier: CA1309750

Gene: ASPM

Linked Data

• ClinVar Variation Id: 294624
• ClinVar RCV Id: RCV000375823
• dbSNP Id: rs748503995
• ExAC: 1:197072908 ATTG / A
• gnomAD v2: 1-197072908-ATTG-A
• gnomAD v4: 1-197103778-ATTG-A
• MyVariant Identifiers: chr1:g.197072909_197072911del (hg19) ; chr1:g.197103779_197103781del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197103784_197103786del , CM000663.2:g.197103784_197103786del	GRCh38
NC_000001.10:g.197072914_197072916del , CM000663.1:g.197072914_197072916del	GRCh37
NC_000001.9:g.195339537_195339539del	NCBI36
NG_015867.1:g.47914_47916del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-7617_2108-7615del
ENST00000367409.9:c.5470_5472del MANE Select	ENSP00000356379.4:p.Gln1824del
ENST00000680265.1:c.5470_5472del	ENSP00000505384.1:p.Gln1824del
ENST00000680710.1:c.5470_5472del	ENSP00000506676.1:p.Gln1824del
ENST00000294732.11:c.4066-7617_4066-7615del	ENSP00000294732.7:n.4066-7617_4066-7615del
ENST00000367408.5:c.1816-7617_1816-7615del	ENSP00000356378.1:n.1816-7617_1816-7615del
ENST00000367409.8:c.5470_5472del	ENSP00000356379.4:p.Gln1824del
ENST00000612785.1:c.562-1134_562-1132del	ENSP00000479244.1:n.562-1134_562-1132del
NM_001206846.1:c.4066-7617_4066-7615del	NP_001193775.1:n.4066-7617_4066-7615del
NM_018136.4:c.5470_5472del	NP_060606.3:p.Gln1824del
NM_018136.5:c.5470_5472del MANE Select	NP_060606.3:p.Gln1824del
NM_001206846.2:c.4066-7617_4066-7615del	NP_001193775.1:n.4066-7617_4066-7615del