Canonical Allele Identifier: CA869018974

Gene: PTCSC2

Linked Data

• dbSNP Id: rs1554712823
• MyVariant Identifiers: chr9:g.100614227_100614228insCCCCT (hg19) ; chr9:g.97851945_97851946insCCCCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97851949_97851950insTCCCC , CM000671.2:g.97851949_97851950insTCCCC	GRCh38
NC_000009.11:g.100614231_100614232insTCCCC , CM000671.1:g.100614231_100614232insTCCCC	GRCh37
NC_000009.10:g.99654052_99654053insTCCCC	NCBI36
NG_011979.1:g.3695_3696insTCCCC

Transcript Alleles

HGVS	Amino-acid Change
XR_930158.1:n.218+930_218+931insAGGGG
XR_930159.1:n.218+930_218+931insAGGGG
XR_930160.1:n.218+930_218+931insAGGGG
XR_930161.1:n.218+930_218+931insAGGGG
NR_147055.1:n.165+970_165+971insAGGGG