Canonical Allele Identifier: CA2785233555

Gene: PTCSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97851933_97851934insCGGGGGGGGGGGGGGGG , CM000671.2:g.97851933_97851934insCGGGGGGGGGGGGGGGG	GRCh38
NC_000009.11:g.100614215_100614216insCGGGGGGGGGGGGGGGG , CM000671.1:g.100614215_100614216insCGGGGGGGGGGGGGGGG	GRCh37
NC_000009.10:g.99654036_99654037insCGGGGGGGGGGGGGGGG	NCBI36
NG_011979.1:g.3679_3680insCGGGGGGGGGGGGGGGG

Transcript Alleles

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