Canonical Allele Identifier: CA1127208514
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1384653767
gnomAD v3: 9-97851943-C-CCCA
gnomAD v4: 9-97851943-C-CCCA
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851945_97851946insACC , CM000671.2:g.97851945_97851946insACC GRCh38
NC_000009.11:g.100614227_100614228insACC , CM000671.1:g.100614227_100614228insACC GRCh37
NC_000009.10:g.99654048_99654049insACC NCBI36
NG_011979.1:g.3691_3692insACC

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+932_218+933insTGG
XR_930159.1:n.218+932_218+933insTGG
XR_930160.1:n.218+932_218+933insTGG
XR_930161.1:n.218+932_218+933insTGG
NR_147055.1:n.165+972_165+973insTGG
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