Canonical Allele Identifier: CA2673271068

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13792073-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13792075dup , CM000667.2:g.13792075dup	GRCh38
NC_000005.9:g.13792184dup , CM000667.1:g.13792184dup	GRCh37
NC_000005.8:g.13845184dup	NCBI36
NG_013081.1:g.157407dup
NG_013081.2:g.157407dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8368dup MANE Select	ENSP00000265104.4:p.Tyr2790LeufsTer4
ENST00000681290.1:c.8323dup	ENSP00000505288.1:p.Tyr2775LeufsTer4
ENST00000265104.4:c.8368dup	ENSP00000265104.4:p.Tyr2790LeufsTer4
NM_001369.2:c.8368dup	NP_001360.1:p.Tyr2790LeufsTer4
XM_005248262.2:c.8323dup	XP_005248319.1:p.Tyr2775LeufsTer4
XM_011513990.1:c.8368dup	XP_011512292.1:p.Tyr2790LeufsTer4
XR_925598.1:n.8575dup
XM_005248262.3:c.8476dup	XP_005248319.2:p.Tyr2826LeufsTer4
XM_017009177.1:c.8476dup	XP_016864666.1:p.Tyr2826LeufsTer4
XM_017009178.1:c.7381dup	XP_016864667.1:p.Tyr2461LeufsTer4
XM_017009179.2:c.7381dup	XP_016864668.1:p.Tyr2461LeufsTer4
XM_017009180.1:c.8476dup	XP_016864669.1:p.Tyr2826LeufsTer4
XM_017009181.1:c.8476dup	XP_016864670.1:p.Tyr2826LeufsTer4
XM_017009182.1:c.8476dup	XP_016864671.1:p.Tyr2826LeufsTer4
XM_017009183.1:c.8476dup	XP_016864672.1:p.Tyr2826LeufsTer4
XM_017009184.1:c.8476dup	XP_016864673.1:p.Tyr2826LeufsTer4
XM_017009185.1:c.3565dup	XP_016864674.1:p.Tyr1189LeufsTer4
XM_017009186.1:c.3118dup	XP_016864675.1:p.Tyr1040LeufsTer4
XM_017009188.1:c.2455dup	XP_016864677.1:p.Tyr819LeufsTer4
XM_024454388.1:c.7381dup	XP_024310156.1:p.Tyr2461LeufsTer4
XM_024454389.1:c.6970dup	XP_024310157.1:p.Tyr2324LeufsTer4
XR_001742034.1:n.8493dup
XR_001742035.1:n.8493dup
NM_001369.3:c.8368dup MANE Select	NP_001360.1:p.Tyr2790LeufsTer4