Canonical Allele Identifier: CA2785233516
Gene: PTCSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851925_97851926insCA , CM000671.2:g.97851925_97851926insCA GRCh38
NC_000009.11:g.100614207_100614208insCA , CM000671.1:g.100614207_100614208insCA GRCh37
NC_000009.10:g.99654028_99654029insCA NCBI36
NG_011979.1:g.3671_3672insCA

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+950_218+951insTG
XR_930159.1:n.218+950_218+951insTG
XR_930160.1:n.218+950_218+951insTG
XR_930161.1:n.218+950_218+951insTG
NR_147055.1:n.165+990_165+991insTG