Canonical Allele Identifier: CA1127208601
Gene: PTCSC2 HGNC NCBI

Linked Data

dbSNP Id: rs1830594284
gnomAD v3: 9-97851947-C-CCCCA
gnomAD v4: 9-97851947-C-CCCCA
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851950_97851951insACCC , CM000671.2:g.97851950_97851951insACCC GRCh38
NC_000009.11:g.100614232_100614233insACCC , CM000671.1:g.100614232_100614233insACCC GRCh37
NC_000009.10:g.99654053_99654054insACCC NCBI36
NG_011979.1:g.3696_3697insACCC

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+928_218+929insTGGG
XR_930159.1:n.218+928_218+929insTGGG
XR_930160.1:n.218+928_218+929insTGGG
XR_930161.1:n.218+928_218+929insTGGG
NR_147055.1:n.165+968_165+969insTGGG
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