Canonical Allele Identifier: CA1866667658

Gene: PTCSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97852293_97852304delinsGCTCTCTTCCCA , CM000671.2:g.97852293_97852304delinsGCTCTCTTCCCA	GRCh38
NC_000009.11:g.100614575_100614586delinsGCTCTCTTCCCA , CM000671.1:g.100614575_100614586delinsGCTCTCTTCCCA	GRCh37
NC_000009.10:g.99654396_99654407delinsGCTCTCTTCCCA	NCBI36
NG_011979.1:g.4039_4050delinsGCTCTCTTCCCA

Transcript Alleles

HGVS	Amino-acid Change
XR_930158.1:n.218+572_218+583delinsTGGGAAGAGAGC
XR_930159.1:n.218+572_218+583delinsTGGGAAGAGAGC
XR_930160.1:n.218+572_218+583delinsTGGGAAGAGAGC
XR_930161.1:n.218+572_218+583delinsTGGGAAGAGAGC
NR_147055.1:n.165+612_165+623delinsTGGGAAGAGAGC