Canonical Allele Identifier: CA2720392244
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs2131483627

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851957_97851959del , CM000671.2:g.97851957_97851959del GRCh38
NC_000009.11:g.100614239_100614241del , CM000671.1:g.100614239_100614241del GRCh37
NC_000009.10:g.99654060_99654062del NCBI36
NG_011979.1:g.3703_3705del

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+917_218+919del
XR_930159.1:n.218+917_218+919del
XR_930160.1:n.218+917_218+919del
XR_930161.1:n.218+917_218+919del
NR_147055.1:n.165+957_165+959del