Canonical Allele Identifier: CA548332319
Gene: TERC HGNC NCBI

Linked Data

ClinVar Variation Id: 1338286
ClinVar RCV Id: RCV003505192
dbSNP Id: rs1415168771
gnomAD v2: 3-169482483-CGGCCTGAAA-C
gnomAD v4: 3-169764695-CGGCCTGAAA-C
MyVariant Identifiers: chr3:g.169482484_169482492del (hg19) chr3:g.169764696_169764704del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.169764704_169764712del , CM000665.2:g.169764704_169764712del GRCh38
NC_000003.11:g.169482492_169482500del , CM000665.1:g.169482492_169482500del GRCh37
NC_000003.10:g.170965186_170965194del NCBI36
NG_016363.1:g.5357_5365del , LRG_347:g.5357_5365del

Transcript Alleles

HGVS Amino-acid change
NR_001566.1:n.357_365del , LRG_347t1:n.357_365del
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