Canonical Allele Identifier: CA2673276427

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13870729-A-AGAAATATTTCTACATGTTGGATGCTATTAGCT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13870741_13870742insCATGTTGGATGCTATTAGCTGAAATATTTCTA , CM000667.2:g.13870741_13870742insCATGTTGGATGCTATTAGCTGAAATATTTCTA	GRCh38
NC_000005.9:g.13870850_13870851insCATGTTGGATGCTATTAGCTGAAATATTTCTA , CM000667.1:g.13870850_13870851insCATGTTGGATGCTATTAGCTGAAATATTTCTA	GRCh37
NC_000005.8:g.13923850_13923851insCATGTTGGATGCTATTAGCTGAAATATTTCTA	NCBI36
NG_013081.1:g.78751_78752insAGCTAATAGCATCCAACATGTAGAAATATTTC
NG_013081.2:g.78751_78752insAGCTAATAGCATCCAACATGTAGAAATATTTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.3834+37_3834+38insAGCTAATAGCATCCAACATGTAGAAATATTTC MANE Select	ENSP00000265104.4:n.3834+37_3834+38insAGC...
ENST00000681290.1:c.3789+37_3789+38insAGCTAATAGCATCCAACATGTAGAAATATTTC	ENSP00000505288.1:n.3789+37_3789+38insAGC...
ENST00000265104.4:c.3834+37_3834+38insAGCTAATAGCATCCAACATGTAGAAATATTTC	ENSP00000265104.4:n.3834+37_3834+38insAGC...
NM_001369.2:c.3834+37_3834+38insAGCTAATAGCATCCAACATGTAGAAATATTTC	NP_001360.1:n.3834+37_3834+38insAGCTAATAG...
XM_005248262.2:c.3789+37_3789+38insAGCTAATAGCATCCAACATGTAGAAATATTTC	XP_005248319.1:n.3789+37_3789+38insAGCTAA...
XM_011513990.1:c.3834+37_3834+38insAGCTAATAGCATCCAACATGTAGAAATATTTC	XP_011512292.1:n.3834+37_3834+38insAGCTAA...
XR_925598.1:n.4041+37_4041+38insAGCTAATAGCATCCAACATGTAGAAATATTTC
XM_005248262.3:c.3942+37_3942+38insAGCTAATAGCATCCAACATGTAGAAATATTTC	XP_005248319.2:n.3942+37_3942+38insAGCTAA...
XM_017009177.1:c.3942+37_3942+38insAGCTAATAGCATCCAACATGTAGAAATATTTC	XP_016864666.1:n.3942+37_3942+38insAGCTAA...
XM_017009178.1:c.2847+37_2847+38insAGCTAATAGCATCCAACATGTAGAAATATTTC	XP_016864667.1:n.2847+37_2847+38insAGCTAA...
XM_017009179.2:c.2847+37_2847+38insAGCTAATAGCATCCAACATGTAGAAATATTTC	XP_016864668.1:n.2847+37_2847+38insAGCTAA...
XM_017009180.1:c.3942+37_3942+38insAGCTAATAGCATCCAACATGTAGAAATATTTC	XP_016864669.1:n.3942+37_3942+38insAGCTAA...
XM_017009181.1:c.3942+37_3942+38insAGCTAATAGCATCCAACATGTAGAAATATTTC	XP_016864670.1:n.3942+37_3942+38insAGCTAA...
XM_017009182.1:c.3942+37_3942+38insAGCTAATAGCATCCAACATGTAGAAATATTTC	XP_016864671.1:n.3942+37_3942+38insAGCTAA...
XM_017009183.1:c.3942+37_3942+38insAGCTAATAGCATCCAACATGTAGAAATATTTC	XP_016864672.1:n.3942+37_3942+38insAGCTAA...
XM_017009184.1:c.3942+37_3942+38insAGCTAATAGCATCCAACATGTAGAAATATTTC	XP_016864673.1:n.3942+37_3942+38insAGCTAA...
XM_017009187.1:c.3942+37_3942+38insAGCTAATAGCATCCAACATGTAGAAATATTTC	XP_016864676.1:n.3942+37_3942+38insAGCTAA...
XM_024454388.1:c.2847+37_2847+38insAGCTAATAGCATCCAACATGTAGAAATATTTC	XP_024310156.1:n.2847+37_2847+38insAGCTAA...
XM_024454389.1:c.2436+37_2436+38insAGCTAATAGCATCCAACATGTAGAAATATTTC	XP_024310157.1:n.2436+37_2436+38insAGCTAA...
XR_001742034.1:n.3959+37_3959+38insAGCTAATAGCATCCAACATGTAGAAATATTTC
XR_001742035.1:n.3959+37_3959+38insAGCTAATAGCATCCAACATGTAGAAATATTTC
NM_001369.3:c.3834+37_3834+38insAGCTAATAGCATCCAACATGTAGAAATATTTC MANE Select	NP_001360.1:n.3834+37_3834+38insAGCTAATAG...