Canonical Allele Identifier: CA2565582581
Gene: PTCSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851937_97851938insAGCCCCCCCCCCCCCCCCCCCCCC , CM000671.2:g.97851937_97851938insAGCCCCCCCCCCCCCCCCCCCCCC GRCh38
NC_000009.11:g.100614219_100614220insAGCCCCCCCCCCCCCCCCCCCCCC , CM000671.1:g.100614219_100614220insAGCCCCCCCCCCCCCCCCCCCCCC GRCh37
NC_000009.10:g.99654040_99654041insAGCCCCCCCCCCCCCCCCCCCCCC NCBI36
NG_011979.1:g.3683_3684insAGCCCCCCCCCCCCCCCCCCCCCC

Transcript Alleles

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