Canonical Allele Identifier: CA10645908
Gene: DNAL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 314070
ClinVar RCV Id: RCV000286140
dbSNP Id: rs568527612
gnomAD v2: 14-74165567-C-CT
gnomAD v3: 14-73698864-C-CT
gnomAD v4: 14-73698864-C-CT
MyVariant Identifiers: chr14:g.74165568dupT (hg19) chr14:g.74165567_74165568insT (hg19) chr14:g.73698865dupT (hg38) chr14:g.73698864_73698865insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73698865dup , CM000676.2:g.73698865dup GRCh38
NC_000014.8:g.74165568dup , CM000676.1:g.74165568dup GRCh37
NC_000014.7:g.73235321dup NCBI36
NG_028083.1:g.58991dup
NG_028083.2:g.58991dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000553645.7:c.*2923dup MANE Select ENSP00000452037.1:n.*2923dup
ENST00000553645.6:c.*2923dup ENSP00000452037.1:n.*2923dup
NM_001201366.1:c.*2923dup NP_001188295.1:n.*2923dup
NM_031427.3:c.*2923dup NP_113615.2:n.*2923dup
XM_017021679.2:c.*2923dup XP_016877168.1:n.*2923dup
XM_024449715.1:c.*2923dup XP_024305483.1:n.*2923dup
NM_031427.4:c.*2923dup MANE Select NP_113615.2:n.*2923dup
NM_001201366.2:c.*2923dup NP_001188295.1:n.*2923dup
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Search 100 bp 3'