Canonical Allele Identifier: CA2783508340
Gene: DNAI1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34517370_34517371del , CM000671.2:g.34517370_34517371del GRCh38
NC_000009.11:g.34517368_34517369del , CM000671.1:g.34517368_34517369del GRCh37
NC_000009.10:g.34507368_34507369del NCBI36
NG_008127.1:g.63558_63559del

Transcript Alleles

HGVS Amino-acid Change
ENST00000242317.9:c.1904_1905del MANE Select ENSP00000242317.4:p.Val635AlafsTer14
ENST00000242317.8:c.1904_1905del ENSP00000242317.4:p.Val635AlafsTer14
ENST00000442556.1:c.329+2631_329+2632del
ENST00000470169.5:c.692_693del
ENST00000485580.1:n.480_481del
ENST00000614641.4:c.1916_1917del ENSP00000480538.1:p.Val639AlafsTer14
NM_001281428.1:c.1916_1917del NP_001268357.1:p.Val639AlafsTer14
NM_012144.3:c.1904_1905del NP_036276.1:p.Val635AlafsTer14
XM_006716758.2:c.1373_1374del XP_006716821.1:p.Val458AlafsTer14
XM_011517848.1:c.1658_1659del XP_011516150.1:p.Val553AlafsTer14
XM_006716758.3:c.1373_1374del XP_006716821.1:p.Val458AlafsTer14
XM_011517848.2:c.1658_1659del XP_011516150.1:p.Val553AlafsTer14
XM_017014625.2:c.1646_1647del XP_016870114.1:p.Val549AlafsTer14
XR_002956774.1:n.2007_2008del
NM_012144.4:c.1904_1905del MANE Select NP_036276.1:p.Val635AlafsTer14
NM_001281428.2:c.1916_1917del NP_001268357.1:p.Val639AlafsTer14