Canonical Allele Identifier: CA1127208288
Gene: PTCSC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851938_97851939insCCCCCCCCCCCCCCCCCCCCC , CM000671.2:g.97851938_97851939insCCCCCCCCCCCCCCCCCCCCC GRCh38
NC_000009.11:g.100614220_100614221insCCCCCCCCCCCCCCCCCCCCC , CM000671.1:g.100614220_100614221insCCCCCCCCCCCCCCCCCCCCC GRCh37
NC_000009.10:g.99654041_99654042insCCCCCCCCCCCCCCCCCCCCC NCBI36
NG_011979.1:g.3684_3685insCCCCCCCCCCCCCCCCCCCCC

Transcript Alleles

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