Canonical Allele Identifier: CA2600571278
Gene: PTCSC2 HGNC NCBI

Linked Data

gnomAD v3: 9-97851939-G-GCCAC
gnomAD v4: 9-97851939-G-GCCAC
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851941_97851942insACCC , CM000671.2:g.97851941_97851942insACCC GRCh38
NC_000009.11:g.100614223_100614224insACCC , CM000671.1:g.100614223_100614224insACCC GRCh37
NC_000009.10:g.99654044_99654045insACCC NCBI36
NG_011979.1:g.3687_3688insACCC

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+936_218+937insGTGG
XR_930159.1:n.218+936_218+937insGTGG
XR_930160.1:n.218+936_218+937insGTGG
XR_930161.1:n.218+936_218+937insGTGG
NR_147055.1:n.165+976_165+977insGTGG
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