Canonical Allele Identifier: CA869018915
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1554712818
gnomAD v3: 9-97851943-C-CT
gnomAD v4: 9-97851943-C-CT
MyVariant Identifiers: chr9:g.100614225_100614226insT (hg19) chr9:g.97851943_97851944insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851943_97851944insT , CM000671.2:g.97851943_97851944insT GRCh38
NC_000009.11:g.100614225_100614226insT , CM000671.1:g.100614225_100614226insT GRCh37
NC_000009.10:g.99654046_99654047insT NCBI36
NG_011979.1:g.3689_3690insT

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+932_218+933insA
XR_930159.1:n.218+932_218+933insA
XR_930160.1:n.218+932_218+933insA
XR_930161.1:n.218+932_218+933insA
NR_147055.1:n.165+972_165+973insA
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