Canonical Allele Identifier: CA197059015

Gene: PTCSC2

Linked Data

• dbSNP Id: rs971022981
• gnomAD v2: 9-100613900-CAGG-C
• gnomAD v3: 9-97851618-CAGG-C
• gnomAD v4: 9-97851618-CAGG-C
• MyVariant Identifiers: chr9:g.100613901_100613903del (hg19) ; chr9:g.97851619_97851621del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97851621_97851623del , CM000671.2:g.97851621_97851623del	GRCh38
NC_000009.11:g.100613903_100613905del , CM000671.1:g.100613903_100613905del	GRCh37
NC_000009.10:g.99653724_99653726del	NCBI36
NG_011979.1:g.3367_3369del

Transcript Alleles

HGVS	Amino-acid Change
XR_930158.1:n.218+1255_218+1257del
XR_930159.1:n.218+1255_218+1257del
XR_930160.1:n.218+1255_218+1257del
XR_930161.1:n.218+1255_218+1257del
NR_147055.1:n.165+1295_165+1297del