Canonical Allele Identifier: CA1866666582
Gene: PTCSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851618_97851621delinsCAGG , CM000671.2:g.97851618_97851621delinsCAGG GRCh38
NC_000009.11:g.100613900_100613903delinsCAGG , CM000671.1:g.100613900_100613903delinsCAGG GRCh37
NC_000009.10:g.99653721_99653724delinsCAGG NCBI36
NG_011979.1:g.3364_3367delinsCAGG

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+1255_218+1258delinsCCTG
XR_930159.1:n.218+1255_218+1258delinsCCTG
XR_930160.1:n.218+1255_218+1258delinsCCTG
XR_930161.1:n.218+1255_218+1258delinsCCTG
NR_147055.1:n.165+1295_165+1298delinsCCTG