Canonical Allele Identifier: CA589533065
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1356843106
gnomAD v2: 9-100614877-A-ATTTC
gnomAD v3: 9-97852595-A-ATTTC
gnomAD v4: 9-97852595-A-ATTTC
MyVariant Identifiers: chr9:g.100614877_100614878insTTTC (hg19) chr9:g.97852595_97852596insTTTC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97852595_97852596insTTTC , CM000671.2:g.97852595_97852596insTTTC GRCh38
NC_000009.11:g.100614877_100614878insTTTC , CM000671.1:g.100614877_100614878insTTTC GRCh37
NC_000009.10:g.99654698_99654699insTTTC NCBI36
NG_011979.1:g.4341_4342insTTTC

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+280_218+281insGAAA
XR_930159.1:n.218+280_218+281insGAAA
XR_930160.1:n.218+280_218+281insGAAA
XR_930161.1:n.218+280_218+281insGAAA
NR_147055.1:n.165+320_165+321insGAAA
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