Canonical Allele Identifier: CA869004609

Gene: PTCSC2

Linked Data

• dbSNP Id: rs1389703060
• gnomAD v3: 9-97793836-TA-T
• gnomAD v4: 9-97793836-TA-T
• MyVariant Identifiers: chr9:g.100556119del (hg19) ; chr9:g.97793837del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97793841del , CM000671.2:g.97793841del	GRCh38
NC_000009.11:g.100556123del , CM000671.1:g.100556123del	GRCh37
NC_000009.10:g.99595944del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_930161.1:n.363+16058del
XR_930162.1:n.6526del
NR_147055.1:n.777+10414del