Canonical Allele Identifier: CA2785233565

Gene: PTCSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97851933_97851934insCGGGCGGGGGGGG , CM000671.2:g.97851933_97851934insCGGGCGGGGGGGG	GRCh38
NC_000009.11:g.100614215_100614216insCGGGCGGGGGGGG , CM000671.1:g.100614215_100614216insCGGGCGGGGGGGG	GRCh37
NC_000009.10:g.99654036_99654037insCGGGCGGGGGGGG	NCBI36
NG_011979.1:g.3679_3680insCGGGCGGGGGGGG

Transcript Alleles

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