Canonical Allele Identifier: CA1127208295
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs66806500

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851938_97851939insCCCCCCCCCCCCCCCCCCCCCCC , CM000671.2:g.97851938_97851939insCCCCCCCCCCCCCCCCCCCCCCC GRCh38
NC_000009.11:g.100614220_100614221insCCCCCCCCCCCCCCCCCCCCCCC , CM000671.1:g.100614220_100614221insCCCCCCCCCCCCCCCCCCCCCCC GRCh37
NC_000009.10:g.99654041_99654042insCCCCCCCCCCCCCCCCCCCCCCC NCBI36
NG_011979.1:g.3684_3685insCCCCCCCCCCCCCCCCCCCCCCC

Transcript Alleles

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