Canonical Allele Identifier: CA589533059

Gene: PTCSC2

Linked Data

• dbSNP Id: rs1324310125
• gnomAD v2: 9-100614791-G-GCCTATCCCTAAATATCTACCA
• gnomAD v3: 9-97852509-G-GCCTATCCCTAAATATCTACCA
• gnomAD v4: 9-97852509-G-GCCTATCCCTAAATATCTACCA
• MyVariant Identifiers: chr9:g.100614791_100614792insCCTATCCCTAAATATCTACCA (hg19) ; chr9:g.97852509_97852510insCCTATCCCTAAATATCTACCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97852511_97852531dup , CM000671.2:g.97852511_97852531dup	GRCh38
NC_000009.11:g.100614793_100614813dup , CM000671.1:g.100614793_100614813dup	GRCh37
NC_000009.10:g.99654614_99654634dup	NCBI36
NG_011979.1:g.4257_4277dup

Transcript Alleles

HGVS	Amino-acid Change
XR_930158.1:n.218+346_218+366dup
XR_930159.1:n.218+346_218+366dup
XR_930160.1:n.218+346_218+366dup
XR_930161.1:n.218+346_218+366dup
NR_147055.1:n.165+386_165+406dup