Canonical Allele Identifier: CA2785233557
Gene: PTCSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851933_97851934insCGGGCG , CM000671.2:g.97851933_97851934insCGGGCG GRCh38
NC_000009.11:g.100614215_100614216insCGGGCG , CM000671.1:g.100614215_100614216insCGGGCG GRCh37
NC_000009.10:g.99654036_99654037insCGGGCG NCBI36
NG_011979.1:g.3679_3680insCGGGCG

Transcript Alleles

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