Canonical Allele Identifier: CA1866666836
Gene: PTCSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851932_97851935delinsCCGG , CM000671.2:g.97851932_97851935delinsCCGG GRCh38
NC_000009.11:g.100614214_100614217delinsCCGG , CM000671.1:g.100614214_100614217delinsCCGG GRCh37
NC_000009.10:g.99654035_99654038delinsCCGG NCBI36
NG_011979.1:g.3678_3681delinsCCGG

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+941_218+944delinsCCGG
XR_930159.1:n.218+941_218+944delinsCCGG
XR_930160.1:n.218+941_218+944delinsCCGG
XR_930161.1:n.218+941_218+944delinsCCGG
NR_147055.1:n.165+981_165+984delinsCCGG