Canonical Allele Identifier: CA466322923

Gene: PTCSC2

Linked Data

• dbSNP Id: rs1554712842
• gnomAD v2: 9-100614232-C-CA
• gnomAD v3: 9-97851950-C-CA
• gnomAD v4: 9-97851950-C-CA
• MyVariant Identifiers: chr9:g.100614232_100614233insA (hg19) ; chr9:g.97851950_97851951insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97851950_97851951insA , CM000671.2:g.97851950_97851951insA	GRCh38
NC_000009.11:g.100614232_100614233insA , CM000671.1:g.100614232_100614233insA	GRCh37
NC_000009.10:g.99654053_99654054insA	NCBI36
NG_011979.1:g.3696_3697insA

Transcript Alleles

HGVS	Amino-acid Change
XR_930158.1:n.218+925_218+926insT
XR_930159.1:n.218+925_218+926insT
XR_930160.1:n.218+925_218+926insT
XR_930161.1:n.218+925_218+926insT
NR_147055.1:n.165+965_165+966insT