Canonical Allele Identifier: CA1127208532
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1302110211
gnomAD v3: 9-97851944-C-CT
gnomAD v4: 9-97851944-C-CT
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851944_97851945insT , CM000671.2:g.97851944_97851945insT GRCh38
NC_000009.11:g.100614226_100614227insT , CM000671.1:g.100614226_100614227insT GRCh37
NC_000009.10:g.99654047_99654048insT NCBI36
NG_011979.1:g.3690_3691insT

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+931_218+932insA
XR_930159.1:n.218+931_218+932insA
XR_930160.1:n.218+931_218+932insA
XR_930161.1:n.218+931_218+932insA
NR_147055.1:n.165+971_165+972insA
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