Canonical Allele Identifier: CA1127208569
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1830594127
gnomAD v3: 9-97851946-C-CCCCA
gnomAD v4: 9-97851946-C-CCCCA
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851949_97851950insACCC , CM000671.2:g.97851949_97851950insACCC GRCh38
NC_000009.11:g.100614231_100614232insACCC , CM000671.1:g.100614231_100614232insACCC GRCh37
NC_000009.10:g.99654052_99654053insACCC NCBI36
NG_011979.1:g.3695_3696insACCC

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+929_218+930insTGGG
XR_930159.1:n.218+929_218+930insTGGG
XR_930160.1:n.218+929_218+930insTGGG
XR_930161.1:n.218+929_218+930insTGGG
NR_147055.1:n.165+969_165+970insTGGG
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