Canonical Allele Identifier: CA10635226
Gene: DNAL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 314071
ClinVar RCV Id: RCV000343381
dbSNP Id: rs769560403
gnomAD v2: 14-74165753-A-ACC
gnomAD v3: 14-73699050-A-ACC
gnomAD v4: 14-73699050-A-ACC
MyVariant Identifiers: chr14:g.74165755_74165756dupCC (hg19) chr14:g.74165753_74165754insCC (hg19) chr14:g.73699052_73699053dupCC (hg38) chr14:g.73699050_73699051insCC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73699052_73699053dup , CM000676.2:g.73699052_73699053dup GRCh38
NC_000014.8:g.74165755_74165756dup , CM000676.1:g.74165755_74165756dup GRCh37
NC_000014.7:g.73235508_73235509dup NCBI36
NG_028083.1:g.59178_59179dup
NG_028083.2:g.59178_59179dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000553645.7:c.*3110_*3111dup MANE Select ENSP00000452037.1:n.*3110_*3111dup
ENST00000553645.6:c.*3110_*3111dup ENSP00000452037.1:n.*3110_*3111dup
NM_001201366.1:c.*3110_*3111dup NP_001188295.1:n.*3110_*3111dup
NM_031427.3:c.*3110_*3111dup NP_113615.2:n.*3110_*3111dup
XM_017021679.2:c.*3110_*3111dup XP_016877168.1:n.*3110_*3111dup
XM_024449715.1:c.*3110_*3111dup XP_024305483.1:n.*3110_*3111dup
NM_031427.4:c.*3110_*3111dup MANE Select NP_113615.2:n.*3110_*3111dup
NM_001201366.2:c.*3110_*3111dup NP_001188295.1:n.*3110_*3111dup
Search 100 bp 5'
Search 100 bp 3'