Canonical Allele Identifier: CA1127208347
Gene: PTCSC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851935_97851936insGCCCCCCCCCCCC , CM000671.2:g.97851935_97851936insGCCCCCCCCCCCC GRCh38
NC_000009.11:g.100614217_100614218insGCCCCCCCCCCCC , CM000671.1:g.100614217_100614218insGCCCCCCCCCCCC GRCh37
NC_000009.10:g.99654038_99654039insGCCCCCCCCCCCC NCBI36
NG_011979.1:g.3681_3682insGCCCCCCCCCCCC

Transcript Alleles

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