Canonical Allele Identifier: CA10640860
Gene: DNAL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 314120
ClinVar RCV Id: RCV000269626
dbSNP Id: rs10679978
gnomAD v2: 14-74168781-GGTGTGT-G
gnomAD v3: 14-73702078-GGTGTGT-G
gnomAD v4: 14-73702078-GGTGTGT-G
MyVariant Identifiers: chr14:g.74168803_74168808del (hg19) chr14:g.74168782_74168787del (hg19) chr14:g.73702100_73702105del (hg38) chr14:g.73702079_73702084del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73702100_73702105del , CM000676.2:g.73702100_73702105del GRCh38
NC_000014.8:g.74168803_74168808del , CM000676.1:g.74168803_74168808del GRCh37
NC_000014.7:g.73238556_73238561del NCBI36
NG_028083.1:g.62226_62231del
NG_028083.2:g.62226_62231del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553645.7:c.*6158_*6163del MANE Select ENSP00000452037.1:n.*6158_*6163del
ENST00000553645.6:c.*6158_*6163del ENSP00000452037.1:n.*6158_*6163del
NM_001201366.1:c.*6158_*6163del NP_001188295.1:n.*6158_*6163del
NM_031427.3:c.*6158_*6163del NP_113615.2:n.*6158_*6163del
NM_031427.4:c.*6158_*6163del MANE Select NP_113615.2:n.*6158_*6163del
NM_001201366.2:c.*6158_*6163del NP_001188295.1:n.*6158_*6163del
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