Canonical Allele Identifier: CA1127208378

Gene: PTCSC2

Linked Data

• dbSNP Id: rs1830592636
• gnomAD v3: 9-97851935-G-GCCAGCCCCCCC
• gnomAD v4: 9-97851935-G-GCCAGCCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97851937_97851938insAGCCCCCCCCC , CM000671.2:g.97851937_97851938insAGCCCCCCCCC	GRCh38
NC_000009.11:g.100614219_100614220insAGCCCCCCCCC , CM000671.1:g.100614219_100614220insAGCCCCCCCCC	GRCh37
NC_000009.10:g.99654040_99654041insAGCCCCCCCCC	NCBI36
NG_011979.1:g.3683_3684insAGCCCCCCCCC

Transcript Alleles

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