Canonical Allele Identifier: CA589533072
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1246675377
gnomAD v2: 9-100615016-TG-T
gnomAD v3: 9-97852734-TG-T
gnomAD v4: 9-97852734-TG-T
MyVariant Identifiers: chr9:g.100615017del (hg19) chr9:g.97852735del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97852740del , CM000671.2:g.97852740del GRCh38
NC_000009.11:g.100615022del , CM000671.1:g.100615022del GRCh37
NC_000009.10:g.99654843del NCBI36
NG_011979.1:g.4486del

Transcript Alleles

HGVS Amino-acid change
XR_930158.1:n.218+141del
XR_930159.1:n.218+141del
XR_930160.1:n.218+141del
XR_930161.1:n.218+141del
NR_147055.1:n.165+181del
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