Canonical Allele Identifier: CA869019541
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1482838806

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97852590_97852591insTTTC , CM000671.2:g.97852590_97852591insTTTC GRCh38
NC_000009.11:g.100614872_100614873insTTTC , CM000671.1:g.100614872_100614873insTTTC GRCh37
NC_000009.10:g.99654693_99654694insTTTC NCBI36
NG_011979.1:g.4336_4337insTTTC

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+285_218+286insGAAA
XR_930159.1:n.218+285_218+286insGAAA
XR_930160.1:n.218+285_218+286insGAAA
XR_930161.1:n.218+285_218+286insGAAA
NR_147055.1:n.165+325_165+326insGAAA