Canonical Allele Identifier: CA2547676429
Gene: PTCSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851939_97851940dup , CM000671.2:g.97851939_97851940dup GRCh38
NC_000009.11:g.100614221_100614222dup , CM000671.1:g.100614221_100614222dup GRCh37
NC_000009.10:g.99654042_99654043dup NCBI36
NG_011979.1:g.3685_3686dup

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+937_218+938dup
XR_930159.1:n.218+937_218+938dup
XR_930160.1:n.218+937_218+938dup
XR_930161.1:n.218+937_218+938dup
NR_147055.1:n.165+977_165+978dup