Canonical Allele Identifier: CA1127208905

Gene: PTCSC2

Linked Data

• dbSNP Id: rs1830599460
• gnomAD v3: 9-97852364-TG-T
• gnomAD v4: 9-97852364-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97852369del , CM000671.2:g.97852369del	GRCh38
NC_000009.11:g.100614651del , CM000671.1:g.100614651del	GRCh37
NC_000009.10:g.99654472del	NCBI36
NG_011979.1:g.4115del

Transcript Alleles

HGVS	Amino-acid Change
XR_930158.1:n.218+511del
XR_930159.1:n.218+511del
XR_930160.1:n.218+511del
XR_930161.1:n.218+511del
NR_147055.1:n.165+551del