Canonical Allele Identifier: CA1866667478
Gene: PTCSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97852164_97852165delinsAG , CM000671.2:g.97852164_97852165delinsAG GRCh38
NC_000009.11:g.100614446_100614447delinsAG , CM000671.1:g.100614446_100614447delinsAG GRCh37
NC_000009.10:g.99654267_99654268delinsAG NCBI36
NG_011979.1:g.3910_3911delinsAG

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+711_218+712delinsCT
XR_930159.1:n.218+711_218+712delinsCT
XR_930160.1:n.218+711_218+712delinsCT
XR_930161.1:n.218+711_218+712delinsCT
NR_147055.1:n.165+751_165+752delinsCT