Canonical Allele Identifier: CA1127208283
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs66806500

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851938_97851939insCCCCCCCCCCCCCCCCCCC , CM000671.2:g.97851938_97851939insCCCCCCCCCCCCCCCCCCC GRCh38
NC_000009.11:g.100614220_100614221insCCCCCCCCCCCCCCCCCCC , CM000671.1:g.100614220_100614221insCCCCCCCCCCCCCCCCCCC GRCh37
NC_000009.10:g.99654041_99654042insCCCCCCCCCCCCCCCCCCC NCBI36
NG_011979.1:g.3684_3685insCCCCCCCCCCCCCCCCCCC

Transcript Alleles

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