Canonical Allele Identifier: CA918516251
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1554712827
gnomAD v3: 9-97851947-C-CG
gnomAD v4: 9-97851947-C-CG
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851947_97851948insG , CM000671.2:g.97851947_97851948insG GRCh38
NC_000009.11:g.100614229_100614230insG , CM000671.1:g.100614229_100614230insG GRCh37
NC_000009.10:g.99654050_99654051insG NCBI36
NG_011979.1:g.3693_3694insG

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+928_218+929insC
XR_930159.1:n.218+928_218+929insC
XR_930160.1:n.218+928_218+929insC
XR_930161.1:n.218+928_218+929insC
NR_147055.1:n.165+968_165+969insC
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