Canonical Allele Identifier: CA2544232969
Gene: PTCSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851934_97851935insCCCCC , CM000671.2:g.97851934_97851935insCCCCC GRCh38
NC_000009.11:g.100614216_100614217insCCCCC , CM000671.1:g.100614216_100614217insCCCCC GRCh37
NC_000009.10:g.99654037_99654038insCCCCC NCBI36
NG_011979.1:g.3680_3681insCCCCC

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+941_218+942insGGGGG
XR_930159.1:n.218+941_218+942insGGGGG
XR_930160.1:n.218+941_218+942insGGGGG
XR_930161.1:n.218+941_218+942insGGGGG
NR_147055.1:n.165+981_165+982insGGGGG