Canonical Allele Identifier: CA548332328
Gene: TERC HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.169764816del
GRCh37 chr3:g.169482604del
gnomAD v2:
3:169482603 CG / C
gnomAD v3:
3:169764815 CG / C
gnomAD v4:
chr3-169764815-CG-C
Joint Max Group AF 0.00000469 (NFE)
Exomes Max Group AF 0.00000384 (NFE)
ClinVar RCV:
RCV000641647
ClinVar Variation:
534180
dbSNP:
1171775942
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.169764819del , CM000665.2:g.169764819del GRCh38
NC_000003.11:g.169482607del , CM000665.1:g.169482607del GRCh37
NC_000003.10:g.170965301del NCBI36
NG_016363.1:g.5245del , LRG_347:g.5245del

Transcript Alleles

HGVS Amino-acid Change
NR_001566.1:n.245del , LRG_347t1:n.245del
Search 100 bp 5'
Search 100 bp 3'