Canonical Allele Identifier: CA2785233560
Gene: PTCSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851933_97851934insCGGGCGGG , CM000671.2:g.97851933_97851934insCGGGCGGG GRCh38
NC_000009.11:g.100614215_100614216insCGGGCGGG , CM000671.1:g.100614215_100614216insCGGGCGGG GRCh37
NC_000009.10:g.99654036_99654037insCGGGCGGG NCBI36
NG_011979.1:g.3679_3680insCGGGCGGG

Transcript Alleles

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