Canonical Allele Identifier: CA2785233602
Gene: PTCSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851984_97851987del , CM000671.2:g.97851984_97851987del GRCh38
NC_000009.11:g.100614266_100614269del , CM000671.1:g.100614266_100614269del GRCh37
NC_000009.10:g.99654087_99654090del NCBI36
NG_011979.1:g.3730_3733del

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+889_218+892del
XR_930159.1:n.218+889_218+892del
XR_930160.1:n.218+889_218+892del
XR_930161.1:n.218+889_218+892del
NR_147055.1:n.165+929_165+932del