Canonical Allele Identifier: CA2600571260

Gene: PTCSC2

Linked Data

• gnomAD v3: 9-97851933-C-CGGGGGGG
• gnomAD v4: 9-97851933-C-CGGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97851935_97851936insGGGGGGG , CM000671.2:g.97851935_97851936insGGGGGGG	GRCh38
NC_000009.11:g.100614217_100614218insGGGGGGG , CM000671.1:g.100614217_100614218insGGGGGGG	GRCh37
NC_000009.10:g.99654038_99654039insGGGGGGG	NCBI36
NG_011979.1:g.3681_3682insGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
XR_930158.1:n.218+942_218+943insCCCCCCC
XR_930159.1:n.218+942_218+943insCCCCCCC
XR_930160.1:n.218+942_218+943insCCCCCCC
XR_930161.1:n.218+942_218+943insCCCCCCC
NR_147055.1:n.165+982_165+983insCCCCCCC