Canonical Allele Identifier: CA2696808

Gene: TERC

Linked Data

• ClinVar Variation Id: 1365229
• ClinVar RCV Id: RCV001929741
• dbSNP Id: rs769251104
• ExAC: 3:169482647 A / AG
• gnomAD v2: 3-169482647-A-AG
• gnomAD v4: 3-169764859-A-AG
• MyVariant Identifiers: chr3:g.169482647_169482648insG (hg19) ; chr3:g.169764859_169764860insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.169764863dup , CM000665.2:g.169764863dup	GRCh38
NC_000003.11:g.169482651dup , CM000665.1:g.169482651dup	GRCh37
NC_000003.10:g.170965345dup	NCBI36
NG_016363.1:g.5201dup , LRG_347:g.5201dup

Transcript Alleles

HGVS	Amino-acid change
NR_001566.1:n.201dup , LRG_347t1:n.201dup