Canonical Allele Identifier: CA1127208199
Gene: PTCSC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851934_97851935insCCCCCCCCC , CM000671.2:g.97851934_97851935insCCCCCCCCC GRCh38
NC_000009.11:g.100614216_100614217insCCCCCCCCC , CM000671.1:g.100614216_100614217insCCCCCCCCC GRCh37
NC_000009.10:g.99654037_99654038insCCCCCCCCC NCBI36
NG_011979.1:g.3680_3681insCCCCCCCCC

Transcript Alleles

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