Canonical Allele Identifier: CA589532983

Gene: PTCSC2

Linked Data

• gnomAD v2: 9-100614230-C-CG
• gnomAD v3: 9-97851948-C-CG
• gnomAD v4: 9-97851948-C-CG
• MyVariant Identifiers: chr9:g.100614230_100614231insG (hg19) ; chr9:g.97851948_97851949insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97851948_97851949insG , CM000671.2:g.97851948_97851949insG	GRCh38
NC_000009.11:g.100614230_100614231insG , CM000671.1:g.100614230_100614231insG	GRCh37
NC_000009.10:g.99654051_99654052insG	NCBI36
NG_011979.1:g.3694_3695insG

Transcript Alleles

HGVS	Amino-acid Change
XR_930158.1:n.218+927_218+928insC
XR_930159.1:n.218+927_218+928insC
XR_930160.1:n.218+927_218+928insC
XR_930161.1:n.218+927_218+928insC
NR_147055.1:n.165+967_165+968insC