Canonical Allele Identifier: CA1127208382
Gene: PTCSC2 HGNC NCBI

Linked Data

gnomAD v3: 9-97851935-G-GCCAGCCCCCCCCC
gnomAD v4: 9-97851935-G-GCCAGCCCCCCCCC
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851937_97851938insAGCCCCCCCCCCC , CM000671.2:g.97851937_97851938insAGCCCCCCCCCCC GRCh38
NC_000009.11:g.100614219_100614220insAGCCCCCCCCCCC , CM000671.1:g.100614219_100614220insAGCCCCCCCCCCC GRCh37
NC_000009.10:g.99654040_99654041insAGCCCCCCCCCCC NCBI36
NG_011979.1:g.3683_3684insAGCCCCCCCCCCC

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+940_218+941insGGGGGGGGGCTGG
XR_930159.1:n.218+940_218+941insGGGGGGGGGCTGG
XR_930160.1:n.218+940_218+941insGGGGGGGGGCTGG
XR_930161.1:n.218+940_218+941insGGGGGGGGGCTGG
NR_147055.1:n.165+980_165+981insGGGGGGGGGCTGG
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