Canonical Allele Identifier: CA1127208649
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs952851487
gnomAD v3: 9-97851951-C-CCCG
gnomAD v4: 9-97851951-C-CCCG
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851951_97851952insCCG , CM000671.2:g.97851951_97851952insCCG GRCh38
NC_000009.11:g.100614233_100614234insCCG , CM000671.1:g.100614233_100614234insCCG GRCh37
NC_000009.10:g.99654054_99654055insCCG NCBI36
NG_011979.1:g.3697_3698insCCG

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+924_218+925insCGG
XR_930159.1:n.218+924_218+925insCGG
XR_930160.1:n.218+924_218+925insCGG
XR_930161.1:n.218+924_218+925insCGG
NR_147055.1:n.165+964_165+965insCGG
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