Canonical Allele Identifier: CA2785233562
Gene: PTCSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851933_97851934insCGGGCGGGGG , CM000671.2:g.97851933_97851934insCGGGCGGGGG GRCh38
NC_000009.11:g.100614215_100614216insCGGGCGGGGG , CM000671.1:g.100614215_100614216insCGGGCGGGGG GRCh37
NC_000009.10:g.99654036_99654037insCGGGCGGGGG NCBI36
NG_011979.1:g.3679_3680insCGGGCGGGGG

Transcript Alleles

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