Canonical Allele Identifier: CA1127208457
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs2131483507

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851939_97851940del , CM000671.2:g.97851939_97851940del GRCh38
NC_000009.11:g.100614221_100614222del , CM000671.1:g.100614221_100614222del GRCh37
NC_000009.10:g.99654042_99654043del NCBI36
NG_011979.1:g.3685_3686del

Transcript Alleles

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