Canonical Allele Identifier: CA2785233517
Gene: PTCSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851928_97851929del , CM000671.2:g.97851928_97851929del GRCh38
NC_000009.11:g.100614210_100614211del , CM000671.1:g.100614210_100614211del GRCh37
NC_000009.10:g.99654031_99654032del NCBI36
NG_011979.1:g.3674_3675del

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+947_218+948del
XR_930159.1:n.218+947_218+948del
XR_930160.1:n.218+947_218+948del
XR_930161.1:n.218+947_218+948del
NR_147055.1:n.165+987_165+988del