Canonical Allele Identifier: CA589532954

Gene: PTCSC2

Linked Data

• dbSNP Id: rs1244295370
• gnomAD v2: 9-100614222-C-CT
• gnomAD v3: 9-97851940-C-CT
• gnomAD v4: 9-97851940-C-CT
• MyVariant Identifiers: chr9:g.100614222_100614223insT (hg19) ; chr9:g.97851940_97851941insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97851940_97851941insT , CM000671.2:g.97851940_97851941insT	GRCh38
NC_000009.11:g.100614222_100614223insT , CM000671.1:g.100614222_100614223insT	GRCh37
NC_000009.10:g.99654043_99654044insT	NCBI36
NG_011979.1:g.3686_3687insT

Transcript Alleles

HGVS	Amino-acid Change
XR_930158.1:n.218+935_218+936insA
XR_930159.1:n.218+935_218+936insA
XR_930160.1:n.218+935_218+936insA
XR_930161.1:n.218+935_218+936insA
NR_147055.1:n.165+975_165+976insA