Canonical Allele Identifier: CA1866666833
Gene: PTCSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851931_97851935delinsCCCGG , CM000671.2:g.97851931_97851935delinsCCCGG GRCh38
NC_000009.11:g.100614213_100614217delinsCCCGG , CM000671.1:g.100614213_100614217delinsCCCGG GRCh37
NC_000009.10:g.99654034_99654038delinsCCCGG NCBI36
NG_011979.1:g.3677_3681delinsCCCGG

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+941_218+945delinsCCGGG
XR_930159.1:n.218+941_218+945delinsCCGGG
XR_930160.1:n.218+941_218+945delinsCCGGG
XR_930161.1:n.218+941_218+945delinsCCGGG
NR_147055.1:n.165+981_165+985delinsCCGGG