Canonical Allele Identifier: CA2600571262

Gene: PTCSC2

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97851933_97851934insCGGGGGGGGG , CM000671.2:g.97851933_97851934insCGGGGGGGGG	GRCh38
NC_000009.11:g.100614215_100614216insCGGGGGGGGG , CM000671.1:g.100614215_100614216insCGGGGGGGGG	GRCh37
NC_000009.10:g.99654036_99654037insCGGGGGGGGG	NCBI36
NG_011979.1:g.3679_3680insCGGGGGGGGG

Transcript Alleles

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