Canonical Allele Identifier: CA589533066

Gene: PTCSC2

Linked Data

• dbSNP Id: rs1332088663
• gnomAD v2: 9-100614909-CAGTCCTA-C
• gnomAD v3: 9-97852627-CAGTCCTA-C
• gnomAD v4: 9-97852627-CAGTCCTA-C
• MyVariant Identifiers: chr9:g.100614910_100614916del (hg19) ; chr9:g.97852628_97852634del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97852629_97852635del , CM000671.2:g.97852629_97852635del	GRCh38
NC_000009.11:g.100614911_100614917del , CM000671.1:g.100614911_100614917del	GRCh37
NC_000009.10:g.99654732_99654738del	NCBI36
NG_011979.1:g.4375_4381del

Transcript Alleles

HGVS	Amino-acid Change
XR_930158.1:n.218+242_218+248del
XR_930159.1:n.218+242_218+248del
XR_930160.1:n.218+242_218+248del
XR_930161.1:n.218+242_218+248del
NR_147055.1:n.165+282_165+288del