Canonical Allele Identifier: CA1866667358
Gene: PTCSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97852062_97852064delinsAAC , CM000671.2:g.97852062_97852064delinsAAC GRCh38
NC_000009.11:g.100614344_100614346delinsAAC , CM000671.1:g.100614344_100614346delinsAAC GRCh37
NC_000009.10:g.99654165_99654167delinsAAC NCBI36
NG_011979.1:g.3808_3810delinsAAC

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+812_218+814delinsGTT
XR_930159.1:n.218+812_218+814delinsGTT
XR_930160.1:n.218+812_218+814delinsGTT
XR_930161.1:n.218+812_218+814delinsGTT
NR_147055.1:n.165+852_165+854delinsGTT