Canonical Allele Identifier: CA1127208164
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1830592269
gnomAD v3: 9-97851933-C-CCGGG
gnomAD v4: 9-97851933-C-CCGGG
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851933_97851934insCGGG , CM000671.2:g.97851933_97851934insCGGG GRCh38
NC_000009.11:g.100614215_100614216insCGGG , CM000671.1:g.100614215_100614216insCGGG GRCh37
NC_000009.10:g.99654036_99654037insCGGG NCBI36
NG_011979.1:g.3679_3680insCGGG

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+942_218+943insCCCG
XR_930159.1:n.218+942_218+943insCCCG
XR_930160.1:n.218+942_218+943insCCCG
XR_930161.1:n.218+942_218+943insCCCG
NR_147055.1:n.165+982_165+983insCCCG
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