Canonical Allele Identifier: CA1127208349
Gene: PTCSC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851935_97851936insGCCCCCCCCCCCCCCCCCCC , CM000671.2:g.97851935_97851936insGCCCCCCCCCCCCCCCCCCC GRCh38
NC_000009.11:g.100614217_100614218insGCCCCCCCCCCCCCCCCCCC , CM000671.1:g.100614217_100614218insGCCCCCCCCCCCCCCCCCCC GRCh37
NC_000009.10:g.99654038_99654039insGCCCCCCCCCCCCCCCCCCC NCBI36
NG_011979.1:g.3681_3682insGCCCCCCCCCCCCCCCCCCC

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+940_218+941insGGGGGGGGGGGGGGGGGGGC
XR_930159.1:n.218+940_218+941insGGGGGGGGGGGGGGGGGGGC
XR_930160.1:n.218+940_218+941insGGGGGGGGGGGGGGGGGGGC
XR_930161.1:n.218+940_218+941insGGGGGGGGGGGGGGGGGGGC
NR_147055.1:n.165+980_165+981insGGGGGGGGGGGGGGGGGGGC