Canonical Allele Identifier: CA2580072169

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1725622
• ClinVar RCV Id: RCV002309306

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13890986_13890987insACAAGCAGAAGACGGCATA , CM000667.2:g.13890986_13890987insACAAGCAGAAGACGGCATA	GRCh38
NC_000005.9:g.13891095_13891096insACAAGCAGAAGACGGCATA , CM000667.1:g.13891095_13891096insACAAGCAGAAGACGGCATA	GRCh37
NC_000005.8:g.13944095_13944096insACAAGCAGAAGACGGCATA	NCBI36
NG_013081.1:g.58494_58495insTATGCCGTCTTCTGCTTGT
NG_013081.2:g.58494_58495insTATGCCGTCTTCTGCTTGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.2566_2567insTATGCCGTCTTCTGCTTGT MANE Select	ENSP00000265104.4:p.Gln856LeufsTer23
ENST00000681290.1:c.2521_2522insTATGCCGTCTTCTGCTTGT	ENSP00000505288.1:p.Gln841LeufsTer23
ENST00000265104.4:c.2566_2567insTATGCCGTCTTCTGCTTGT	ENSP00000265104.4:p.Gln856LeufsTer23
NM_001369.2:c.2566_2567insTATGCCGTCTTCTGCTTGT	NP_001360.1:p.Gln856LeufsTer23
XM_005248262.2:c.2521_2522insTATGCCGTCTTCTGCTTGT	XP_005248319.1:p.Gln841LeufsTer23
XM_011513990.1:c.2566_2567insTATGCCGTCTTCTGCTTGT	XP_011512292.1:p.Gln856LeufsTer23
XR_925598.1:n.2773_2774insTATGCCGTCTTCTGCTTGT
XM_005248262.3:c.2674_2675insTATGCCGTCTTCTGCTTGT	XP_005248319.2:p.Gln892LeufsTer23
XM_017009177.1:c.2674_2675insTATGCCGTCTTCTGCTTGT	XP_016864666.1:p.Gln892LeufsTer23
XM_017009178.1:c.1579_1580insTATGCCGTCTTCTGCTTGT	XP_016864667.1:p.Gln527LeufsTer23
XM_017009179.2:c.1579_1580insTATGCCGTCTTCTGCTTGT	XP_016864668.1:p.Gln527LeufsTer23
XM_017009180.1:c.2674_2675insTATGCCGTCTTCTGCTTGT	XP_016864669.1:p.Gln892LeufsTer23
XM_017009181.1:c.2674_2675insTATGCCGTCTTCTGCTTGT	XP_016864670.1:p.Gln892LeufsTer23
XM_017009182.1:c.2674_2675insTATGCCGTCTTCTGCTTGT	XP_016864671.1:p.Gln892LeufsTer23
XM_017009183.1:c.2674_2675insTATGCCGTCTTCTGCTTGT	XP_016864672.1:p.Gln892LeufsTer23
XM_017009184.1:c.2674_2675insTATGCCGTCTTCTGCTTGT	XP_016864673.1:p.Gln892LeufsTer23
XM_017009187.1:c.2674_2675insTATGCCGTCTTCTGCTTGT	XP_016864676.1:p.Gln892LeufsTer23
XM_024454388.1:c.1579_1580insTATGCCGTCTTCTGCTTGT	XP_024310156.1:p.Gln527LeufsTer23
XM_024454389.1:c.1168_1169insTATGCCGTCTTCTGCTTGT	XP_024310157.1:p.Gln390LeufsTer23
XR_001742034.1:n.2691_2692insTATGCCGTCTTCTGCTTGT
XR_001742035.1:n.2691_2692insTATGCCGTCTTCTGCTTGT
NM_001369.3:c.2566_2567insTATGCCGTCTTCTGCTTGT MANE Select	NP_001360.1:p.Gln856LeufsTer23