Canonical Allele Identifier: CA2785233566
Gene: PTCSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851935_97851936insGGCG , CM000671.2:g.97851935_97851936insGGCG GRCh38
NC_000009.11:g.100614217_100614218insGGCG , CM000671.1:g.100614217_100614218insGGCG GRCh37
NC_000009.10:g.99654038_99654039insGGCG NCBI36
NG_011979.1:g.3681_3682insGGCG

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+941_218+942insGCCC
XR_930159.1:n.218+941_218+942insGCCC
XR_930160.1:n.218+941_218+942insGCCC
XR_930161.1:n.218+941_218+942insGCCC
NR_147055.1:n.165+981_165+982insGCCC