Canonical Allele Identifier: CA1127208369

Gene: PTCSC2

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97851937_97851938insAGCCCCCCC , CM000671.2:g.97851937_97851938insAGCCCCCCC	GRCh38
NC_000009.11:g.100614219_100614220insAGCCCCCCC , CM000671.1:g.100614219_100614220insAGCCCCCCC	GRCh37
NC_000009.10:g.99654040_99654041insAGCCCCCCC	NCBI36
NG_011979.1:g.3683_3684insAGCCCCCCC

Transcript Alleles

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