Canonical Allele Identifier: CA16612880
Gene: DNAI1 HGNC NCBI

Linked Data

ClinVar Variation Id: 411844
ClinVar RCV Id: RCV000473781 RCV001782959
dbSNP Id: rs1060503515
MyVariant Identifiers: chr9:g.34506749del (hg19) chr9:g.34506751del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34506751del , CM000671.2:g.34506751del GRCh38
NC_000009.11:g.34506749del , CM000671.1:g.34506749del GRCh37
NC_000009.10:g.34496749del NCBI36
NG_008127.1:g.52939del

Transcript Alleles

HGVS Amino-acid change
ENST00000242317.9:c.1188del MANE Select ENSP00000242317.4:p.Tyr397ThrfsTer5
ENST00000242317.8:c.1188del ENSP00000242317.4:p.Tyr397ThrfsTer5
ENST00000470169.5:c.125del
ENST00000614641.4:c.1200del ENSP00000480538.1:p.Tyr401ThrfsTer5
NM_001281428.1:c.1200del NP_001268357.1:p.Tyr401ThrfsTer5
NM_012144.3:c.1188del NP_036276.1:p.Tyr397ThrfsTer5
XM_006716758.2:c.657del XP_006716821.1:p.Tyr220ThrfsTer5
XM_011517846.1:c.1200del XP_011516148.1:p.Tyr401ThrfsTer5
XM_011517847.1:c.1200del XP_011516149.1:p.Tyr401ThrfsTer5
XM_011517848.1:c.1200del XP_011516150.1:p.Tyr401ThrfsTer5
XM_011517849.1:c.1200del XP_011516151.1:p.Tyr401ThrfsTer5
XM_011517850.1:c.1200del XP_011516152.1:p.Tyr401ThrfsTer5
XR_929232.1:n.1454del
XR_929233.1:n.1454del
XR_929235.1:n.1454del
XM_006716758.3:c.657del XP_006716821.1:p.Tyr220ThrfsTer5
XM_011517846.2:c.1200del XP_011516148.1:p.Tyr401ThrfsTer5
XM_011517847.3:c.1200del XP_011516149.1:p.Tyr401ThrfsTer5
XM_011517848.2:c.1200del XP_011516150.1:p.Tyr401ThrfsTer5
XM_011517849.2:c.1200del XP_011516151.1:p.Tyr401ThrfsTer5
XM_011517850.3:c.1200del XP_011516152.1:p.Tyr401ThrfsTer5
XM_017014625.2:c.1188del XP_016870114.1:p.Tyr397ThrfsTer5
XR_002956774.1:n.1401del
XR_929232.2:n.1401del
XR_929233.2:n.1401del
NM_012144.4:c.1188del MANE Select NP_036276.1:p.Tyr397ThrfsTer5
NM_001281428.2:c.1200del NP_001268357.1:p.Tyr401ThrfsTer5
Search 100 bp 5'
Search 100 bp 3'