Canonical Allele Identifier: CA1127208551
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1830593937

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851948_97851949insGCCC , CM000671.2:g.97851948_97851949insGCCC GRCh38
NC_000009.11:g.100614230_100614231insGCCC , CM000671.1:g.100614230_100614231insGCCC GRCh37
NC_000009.10:g.99654051_99654052insGCCC NCBI36
NG_011979.1:g.3694_3695insGCCC

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+930_218+931insCGGG
XR_930159.1:n.218+930_218+931insCGGG
XR_930160.1:n.218+930_218+931insCGGG
XR_930161.1:n.218+930_218+931insCGGG
NR_147055.1:n.165+970_165+971insCGGG