Canonical Allele Identifier: CA1866667970
Gene: PTCSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97852494_97852495delinsTG , CM000671.2:g.97852494_97852495delinsTG GRCh38
NC_000009.11:g.100614776_100614777delinsTG , CM000671.1:g.100614776_100614777delinsTG GRCh37
NC_000009.10:g.99654597_99654598delinsTG NCBI36
NG_011979.1:g.4240_4241delinsTG

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+381_218+382delinsCA
XR_930159.1:n.218+381_218+382delinsCA
XR_930160.1:n.218+381_218+382delinsCA
XR_930161.1:n.218+381_218+382delinsCA
NR_147055.1:n.165+421_165+422delinsCA