Canonical Allele Identifier: CA1866666641
Gene: PTCSC2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851734_97851735delinsAG , CM000671.2:g.97851734_97851735delinsAG GRCh38
NC_000009.11:g.100614016_100614017delinsAG , CM000671.1:g.100614016_100614017delinsAG GRCh37
NC_000009.10:g.99653837_99653838delinsAG NCBI36
NG_011979.1:g.3480_3481delinsAG

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+1141_218+1142delinsCT
XR_930159.1:n.218+1141_218+1142delinsCT
XR_930160.1:n.218+1141_218+1142delinsCT
XR_930161.1:n.218+1141_218+1142delinsCT
NR_147055.1:n.165+1181_165+1182delinsCT
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