Canonical Allele Identifier: CA1127208160
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1830592269

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851933_97851934insCGGGGG , CM000671.2:g.97851933_97851934insCGGGGG GRCh38
NC_000009.11:g.100614215_100614216insCGGGGG , CM000671.1:g.100614215_100614216insCGGGGG GRCh37
NC_000009.10:g.99654036_99654037insCGGGGG NCBI36
NG_011979.1:g.3679_3680insCGGGGG

Transcript Alleles

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