Canonical Allele Identifier: CA1866667776
Gene: PTCSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97852364_97852365delinsTG , CM000671.2:g.97852364_97852365delinsTG GRCh38
NC_000009.11:g.100614646_100614647delinsTG , CM000671.1:g.100614646_100614647delinsTG GRCh37
NC_000009.10:g.99654467_99654468delinsTG NCBI36
NG_011979.1:g.4110_4111delinsTG

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+511_218+512delinsCA
XR_930159.1:n.218+511_218+512delinsCA
XR_930160.1:n.218+511_218+512delinsCA
XR_930161.1:n.218+511_218+512delinsCA
NR_147055.1:n.165+551_165+552delinsCA