Canonical Allele Identifier: CA1866668082
Gene: PTCSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97852570_97852571delinsAG , CM000671.2:g.97852570_97852571delinsAG GRCh38
NC_000009.11:g.100614852_100614853delinsAG , CM000671.1:g.100614852_100614853delinsAG GRCh37
NC_000009.10:g.99654673_99654674delinsAG NCBI36
NG_011979.1:g.4316_4317delinsAG

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+305_218+306delinsCT
XR_930159.1:n.218+305_218+306delinsCT
XR_930160.1:n.218+305_218+306delinsCT
XR_930161.1:n.218+305_218+306delinsCT
NR_147055.1:n.165+345_165+346delinsCT