Canonical Allele Identifier: CA2600571258

Gene: PTCSC2

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97851933_97851934insCGGGGGGGG , CM000671.2:g.97851933_97851934insCGGGGGGGG	GRCh38
NC_000009.11:g.100614215_100614216insCGGGGGGGG , CM000671.1:g.100614215_100614216insCGGGGGGGG	GRCh37
NC_000009.10:g.99654036_99654037insCGGGGGGGG	NCBI36
NG_011979.1:g.3679_3680insCGGGGGGGG

Transcript Alleles

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