Canonical Allele Identifier: CA589532930

Gene: PTCSC2

Linked Data

• dbSNP Id: rs66806500
• gnomAD v2: 9-100614217-G-GCCC
• gnomAD v3: 9-97851935-G-GCCC
• gnomAD v4: 9-97851935-G-GCCC
• MyVariant Identifiers: chr9:g.100614217_100614218insCCC (hg19) ; chr9:g.97851935_97851936insCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97851936_97851938dup , CM000671.2:g.97851936_97851938dup	GRCh38
NC_000009.11:g.100614218_100614220dup , CM000671.1:g.100614218_100614220dup	GRCh37
NC_000009.10:g.99654039_99654041dup	NCBI36
NG_011979.1:g.3682_3684dup

Transcript Alleles

HGVS	Amino-acid Change
XR_930158.1:n.218+938_218+940dup
XR_930159.1:n.218+938_218+940dup
XR_930160.1:n.218+938_218+940dup
XR_930161.1:n.218+938_218+940dup
NR_147055.1:n.165+978_165+980dup