Canonical Allele Identifier: CA10644737
Gene: DNAL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 314073
ClinVar RCV Id: RCV000303656
dbSNP Id: rs529762916
gnomAD v2: 14-74165995-AT-A
gnomAD v3: 14-73699292-AT-A
gnomAD v4: 14-73699292-AT-A
MyVariant Identifiers: chr14:g.74166001del (hg19) chr14:g.74165996del (hg19) chr14:g.73699298del (hg38) chr14:g.73699293del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73699298del , CM000676.2:g.73699298del GRCh38
NC_000014.8:g.74166001del , CM000676.1:g.74166001del GRCh37
NC_000014.7:g.73235754del NCBI36
NG_028083.1:g.59424del
NG_028083.2:g.59424del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553645.7:c.*3356del MANE Select ENSP00000452037.1:n.*3356del
ENST00000553645.6:c.*3356del ENSP00000452037.1:n.*3356del
NM_001201366.1:c.*3356del NP_001188295.1:n.*3356del
NM_031427.3:c.*3356del NP_113615.2:n.*3356del
XM_017021679.2:c.*3356del XP_016877168.1:n.*3356del
XM_024449715.1:c.*3356del XP_024305483.1:n.*3356del
NM_031427.4:c.*3356del MANE Select NP_113615.2:n.*3356del
NM_001201366.2:c.*3356del NP_001188295.1:n.*3356del
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