Canonical Allele Identifier: CA2600571281
Gene: PTCSC2 HGNC NCBI

Linked Data

gnomAD v3: 9-97851940-C-CCCCCT
gnomAD v4: 9-97851940-C-CCCCCT
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97851944_97851945insTCCCC , CM000671.2:g.97851944_97851945insTCCCC GRCh38
NC_000009.11:g.100614226_100614227insTCCCC , CM000671.1:g.100614226_100614227insTCCCC GRCh37
NC_000009.10:g.99654047_99654048insTCCCC NCBI36
NG_011979.1:g.3690_3691insTCCCC

Transcript Alleles

HGVS Amino-acid Change
XR_930158.1:n.218+935_218+936insAGGGG
XR_930159.1:n.218+935_218+936insAGGGG
XR_930160.1:n.218+935_218+936insAGGGG
XR_930161.1:n.218+935_218+936insAGGGG
NR_147055.1:n.165+975_165+976insAGGGG
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