Canonical Allele Identifier: CA8805224
Gene: DNAH17 HGNC NCBI

Linked Data

dbSNP Id: rs767723684

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.78567159_78567160del , CM000679.2:g.78567159_78567160del GRCh38
NC_000017.10:g.76563241_76563242del , CM000679.1:g.76563241_76563242del GRCh37
NC_000017.9:g.74074836_74074837del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000389840.7:c.1293_1294del MANE Select ENSP00000374490.6:p.Tyr431Ter
ENST00000389840.6:c.1293_1294del ENSP00000374490.6:p.Tyr431Ter
ENST00000585328.5:c.1293_1294del ENSP00000465516.1:p.Tyr431Ter
ENST00000589793.1:n.505_506del
NM_173628.3:c.1293_1294del NP_775899.3:p.Tyr431Ter
XM_011525416.1:c.1293_1294del XP_011523718.1:p.Tyr431Ter
XM_011525417.1:c.1293_1294del XP_011523719.1:p.Tyr431Ter
XR_934583.1:n.1454_1455del
XM_011525416.2:c.1293_1294del XP_011523718.1:p.Tyr431Ter
XM_024451013.1:c.1293_1294del XP_024306781.1:p.Tyr431Ter
XM_024451014.1:c.1293_1294del XP_024306782.1:p.Tyr431Ter
XR_002958080.1:n.1456_1457del
XR_002958081.1:n.1460_1461del
NM_173628.4:c.1293_1294del MANE Select NP_775899.3:p.Tyr431Ter