Canonical Allele Identifier: CA16617034
Gene: ASPM HGNC NCBI

Linked Data

ClinVar Variation Id: 419191
ClinVar RCV Id: RCV000481164
dbSNP Id: rs1064793707
MyVariant Identifiers: chr1:g.197073279_197073280insC (hg19) chr1:g.197104149_197104150insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197104149_197104150insC , CM000663.2:g.197104149_197104150insC GRCh38
NC_000001.10:g.197073279_197073280insC , CM000663.1:g.197073279_197073280insC GRCh37
NC_000001.9:g.195339902_195339903insC NCBI36
NG_015867.1:g.47545_47546insG

Transcript Alleles

HGVS Amino-acid change
ENST00000367408.6:n.2108-7986_2108-7985insG
ENST00000367409.9:c.5101_5102insG MANE Select ENSP00000356379.4:p.Leu1701CysfsTer?
ENST00000680265.1:c.5101_5102insG ENSP00000505384.1:p.Leu1701CysfsTer?
ENST00000680710.1:c.5101_5102insG ENSP00000506676.1:p.Leu1701CysfsTer?
ENST00000294732.11:c.4066-7986_4066-7985insG ENSP00000294732.7:n.4066-7986_4066-7985in...
ENST00000367408.5:c.1816-7986_1816-7985insG ENSP00000356378.1:n.1816-7986_1816-7985in...
ENST00000367409.8:c.5101_5102insG ENSP00000356379.4:p.Leu1701CysfsTer?
ENST00000612785.1:c.562-1503_562-1502insG ENSP00000479244.1:n.562-1503_562-1502insG...
NM_001206846.1:c.4066-7986_4066-7985insG NP_001193775.1:n.4066-7986_4066-7985insG
NM_018136.4:c.5101_5102insG NP_060606.3:p.Leu1701CysfsTer?
NM_018136.5:c.5101_5102insG MANE Select NP_060606.3:p.Leu1701CysfsTer?
NM_001206846.2:c.4066-7986_4066-7985insG NP_001193775.1:n.4066-7986_4066-7985insG
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