Canonical Allele Identifier: CA1127208351

Gene: PTCSC2

Linked Data

• dbSNP Id: rs1830592544
• gnomAD v3: 9-97851935-G-GGGCCCCCCCC
• gnomAD v4: 9-97851935-G-GGGCCCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97851935_97851936insGGCCCCCCCC , CM000671.2:g.97851935_97851936insGGCCCCCCCC	GRCh38
NC_000009.11:g.100614217_100614218insGGCCCCCCCC , CM000671.1:g.100614217_100614218insGGCCCCCCCC	GRCh37
NC_000009.10:g.99654038_99654039insGGCCCCCCCC	NCBI36
NG_011979.1:g.3681_3682insGGCCCCCCCC

Transcript Alleles

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