Canonical Allele Identifier: CA294373010
Community Standard Title: NM_173628.4(DNAH17):c.12225+78_12225+113del
Gene: DNAH17 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.78433923_78433958del , CM000679.2:g.78433923_78433958del GRCh38
NC_000017.10:g.76430004_76430039del , CM000679.1:g.76430004_76430039del GRCh37
NC_000017.9:g.73941599_73941634del NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_173628.4:c.12225+78_12225+113del MANE Select NP_775899.3:n.12225+78_12225+113del
ENST00000389840.7:c.12225+78_12225+113del MANE Select ENSP00000374490.6:n.12225+78_12225+113del
NM_173628.3:c.12225+78_12225+113del NP_775899.3:n.12225+78_12225+113del
ENST00000389840.6:c.12225+78_12225+113del ENSP00000374490.6:n.12225+78_12225+113del
ENST00000585328.5:c.12210+78_12210+113del ENSP00000465516.1:n.12210+78_12210+113del
ENST00000586052.5:n.5361+78_5361+113del
ENST00000590227.5:n.1899+78_1899+113del
ENST00000591369.5:c.3827+78_3827+113del
XM_011525416.1:c.12237+78_12237+113del XP_011523718.1:n.12237+78_12237+113del
XM_011525416.2:c.12237+78_12237+113del XP_011523718.1:n.12237+78_12237+113del
XM_011525418.1:c.5604+78_5604+113del XP_011523720.1:n.5604+78_5604+113del
XM_017025261.2:c.5571+78_5571+113del XP_016880750.1:n.5571+78_5571+113del
XM_024451013.1:c.12093+78_12093+113del XP_024306781.1:n.12093+78_12093+113del