Canonical Allele Identifier: CA589532925
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1491523800
gnomAD v2: 9-100614216-G-GGCCA
gnomAD v3: 9-97851934-G-GGCCA
gnomAD v4: 9-97851934-G-GGCCA
MyVariant Identifiers: chr9:g.100614216_100614217insGCCA (hg19) chr9:g.97851934_97851935insGCCA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851937_97851938insAGCC , CM000671.2:g.97851937_97851938insAGCC GRCh38
NC_000009.11:g.100614219_100614220insAGCC , CM000671.1:g.100614219_100614220insAGCC GRCh37
NC_000009.10:g.99654040_99654041insAGCC NCBI36
NG_011979.1:g.3683_3684insAGCC

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+941_218+942insTGGC
XR_930159.1:n.218+941_218+942insTGGC
XR_930160.1:n.218+941_218+942insTGGC
XR_930161.1:n.218+941_218+942insTGGC
NR_147055.1:n.165+981_165+982insTGGC
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