Canonical Allele Identifier: CA863461390
Gene: DNAI1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2148317
ClinVar RCV Id: RCV003081119
dbSNP Id: rs1345403701
gnomAD v3: 9-34514466-TG-T
gnomAD v4: 9-34514466-TG-T
MyVariant Identifiers: chr9:g.34514465del (hg19) chr9:g.34514467del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34514468del , CM000671.2:g.34514468del GRCh38
NC_000009.11:g.34514466del , CM000671.1:g.34514466del GRCh37
NC_000009.10:g.34504466del NCBI36
NG_008127.1:g.60656del

Transcript Alleles

HGVS Amino-acid change
ENST00000242317.9:c.1644del MANE Select ENSP00000242317.4:p.Trp548Ter
ENST00000242317.8:c.1644del ENSP00000242317.4:p.Trp548Ter
ENST00000442556.1:c.155del
ENST00000470169.5:c.507-172del
ENST00000485580.1:n.123del
ENST00000614641.4:c.1656del ENSP00000480538.1:p.Trp552Ter
NM_001281428.1:c.1656del NP_001268357.1:p.Trp552Ter
NM_012144.3:c.1644del NP_036276.1:p.Trp548Ter
XM_006716758.2:c.1113del XP_006716821.1:p.Trp371Ter
XM_011517846.1:c.1656del XP_011516148.1:p.Trp552Ter
XM_011517847.1:c.1656del XP_011516149.1:p.Trp552Ter
XM_011517848.1:c.1398del XP_011516150.1:p.Trp466Ter
XM_011517849.1:c.1582-36del XP_011516151.1:n.1582-36del
XR_929232.1:n.1836-36del
XR_929233.1:n.1836-36del
XR_929235.1:n.1578-36del
XM_006716758.3:c.1113del XP_006716821.1:p.Trp371Ter
XM_011517846.2:c.1656del XP_011516148.1:p.Trp552Ter
XM_011517847.3:c.1656del XP_011516149.1:p.Trp552Ter
XM_011517848.2:c.1398del XP_011516150.1:p.Trp466Ter
XM_011517849.2:c.1582-36del XP_011516151.1:n.1582-36del
XM_017014625.2:c.1386del XP_016870114.1:p.Trp462Ter
XR_002956774.1:n.1783-36del
XR_929232.2:n.1783-36del
XR_929233.2:n.1783-36del
NM_012144.4:c.1644del MANE Select NP_036276.1:p.Trp548Ter
NM_001281428.2:c.1656del NP_001268357.1:p.Trp552Ter
Search 100 bp 5'
Search 100 bp 3'