Canonical Allele Identifier: CA2785233538
Gene: PTCSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851935_97851936insGGGG , CM000671.2:g.97851935_97851936insGGGG GRCh38
NC_000009.11:g.100614217_100614218insGGGG , CM000671.1:g.100614217_100614218insGGGG GRCh37
NC_000009.10:g.99654038_99654039insGGGG NCBI36
NG_011979.1:g.3681_3682insGGGG

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+942_218+943insCCCC
XR_930159.1:n.218+942_218+943insCCCC
XR_930160.1:n.218+942_218+943insCCCC
XR_930161.1:n.218+942_218+943insCCCC
NR_147055.1:n.165+982_165+983insCCCC