Canonical Allele Identifier: CA2785233561
Gene: PTCSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851933_97851934insCGGGCGGGG , CM000671.2:g.97851933_97851934insCGGGCGGGG GRCh38
NC_000009.11:g.100614215_100614216insCGGGCGGGG , CM000671.1:g.100614215_100614216insCGGGCGGGG GRCh37
NC_000009.10:g.99654036_99654037insCGGGCGGGG NCBI36
NG_011979.1:g.3679_3680insCGGGCGGGG

Transcript Alleles

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