Canonical Allele Identifier: CA869019527
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1164618775
gnomAD v3: 9-97852570-AG-A
gnomAD v4: 9-97852570-AG-A
MyVariant Identifiers: chr9:g.100614853del (hg19) chr9:g.97852571del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97852573del , CM000671.2:g.97852573del GRCh38
NC_000009.11:g.100614855del , CM000671.1:g.100614855del GRCh37
NC_000009.10:g.99654676del NCBI36
NG_011979.1:g.4319del

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+305del
XR_930159.1:n.218+305del
XR_930160.1:n.218+305del
XR_930161.1:n.218+305del
NR_147055.1:n.165+345del
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