Canonical Allele Identifier: CA2600571275
Gene: PTCSC2 HGNC NCBI

Linked Data

gnomAD v3: 9-97851939-G-GCCCCCCCCCCCCC
gnomAD v4: 9-97851939-G-GCCCCCCCCCCCCC
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851951_97851952insCCCCCCCCCCCCC , CM000671.2:g.97851951_97851952insCCCCCCCCCCCCC GRCh38
NC_000009.11:g.100614233_100614234insCCCCCCCCCCCCC , CM000671.1:g.100614233_100614234insCCCCCCCCCCCCC GRCh37
NC_000009.10:g.99654054_99654055insCCCCCCCCCCCCC NCBI36
NG_011979.1:g.3697_3698insCCCCCCCCCCCCC

Transcript Alleles

HGVS Amino-acid change
XR_930158.1:n.218+936_218+937insGGGGGGGGGGGGG
XR_930159.1:n.218+936_218+937insGGGGGGGGGGGGG
XR_930160.1:n.218+936_218+937insGGGGGGGGGGGGG
XR_930161.1:n.218+936_218+937insGGGGGGGGGGGGG
NR_147055.1:n.165+976_165+977insGGGGGGGGGGGGG
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