Canonical Allele Identifier: CA2600571267

Gene: PTCSC2

Linked Data

• gnomAD v3: 9-97851935-G-GGCCCCCCCC
• gnomAD v4: 9-97851935-G-GGCCCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97851935_97851936insGCCCCCCCC , CM000671.2:g.97851935_97851936insGCCCCCCCC	GRCh38
NC_000009.11:g.100614217_100614218insGCCCCCCCC , CM000671.1:g.100614217_100614218insGCCCCCCCC	GRCh37
NC_000009.10:g.99654038_99654039insGCCCCCCCC	NCBI36
NG_011979.1:g.3681_3682insGCCCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
XR_930158.1:n.218+940_218+941insGGGGGGGGC
XR_930159.1:n.218+940_218+941insGGGGGGGGC
XR_930160.1:n.218+940_218+941insGGGGGGGGC
XR_930161.1:n.218+940_218+941insGGGGGGGGC
NR_147055.1:n.165+980_165+981insGGGGGGGGC