Canonical Allele Identifier: CA2673280812

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13919076-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13919076_13919077insG , CM000667.2:g.13919076_13919077insG	GRCh38
NC_000005.9:g.13919185_13919186insG , CM000667.1:g.13919185_13919186insG	GRCh37
NC_000005.8:g.13972185_13972186insG	NCBI36
NG_013081.1:g.30404_30405insC
NG_013081.2:g.30404_30405insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000680213.2:n.1031+99_1031+100insC
ENST00000682376.1:n.1118_1119insC
ENST00000682586.1:n.1167_1168insC
ENST00000683011.1:n.914+99_914+100insC
ENST00000683967.1:n.1074+99_1074+100insC
ENST00000684013.1:n.1074+99_1074+100insC
ENST00000684099.1:n.1070+99_1070+100insC
ENST00000265104.5:c.975+99_975+100insC MANE Select	ENSP00000265104.4:n.975+99_975+100insC
ENST00000680213.1:c.735+99_735+100insC	ENSP00000506622.1:n.735+99_735+100insC
ENST00000681290.1:c.930+99_930+100insC	ENSP00000505288.1:n.930+99_930+100insC
ENST00000265104.4:c.975+99_975+100insC	ENSP00000265104.4:n.975+99_975+100insC
ENST00000508040.1:n.1383+99_1383+100insC
NM_001369.2:c.975+99_975+100insC	NP_001360.1:n.975+99_975+100insC
XM_005248262.2:c.930+99_930+100insC	XP_005248319.1:n.930+99_930+100insC
XM_011513990.1:c.975+99_975+100insC	XP_011512292.1:n.975+99_975+100insC
XR_925598.1:n.1182+99_1182+100insC
XM_005248262.3:c.1083+99_1083+100insC	XP_005248319.2:n.1083+99_1083+100insC
XM_017009177.1:c.1083+99_1083+100insC	XP_016864666.1:n.1083+99_1083+100insC
XM_017009178.1:c.-13+99_-13+100insC	XP_016864667.1:n.-13+99_-13+100insC
XM_017009179.2:c.-117_-116insC	XP_016864668.1:n.-117_-116insC
XM_017009180.1:c.1083+99_1083+100insC	XP_016864669.1:n.1083+99_1083+100insC
XM_017009181.1:c.1083+99_1083+100insC	XP_016864670.1:n.1083+99_1083+100insC
XM_017009182.1:c.1083+99_1083+100insC	XP_016864671.1:n.1083+99_1083+100insC
XM_017009183.1:c.1083+99_1083+100insC	XP_016864672.1:n.1083+99_1083+100insC
XM_017009184.1:c.1083+99_1083+100insC	XP_016864673.1:n.1083+99_1083+100insC
XM_017009187.1:c.1083+99_1083+100insC	XP_016864676.1:n.1083+99_1083+100insC
XM_024454388.1:c.-1833_-1832insC	XP_024310156.1:n.-1833_-1832insC
XM_024454389.1:c.-985+99_-985+100insC	XP_024310157.1:n.-985+99_-985+100insC
XR_001742034.1:n.1100+99_1100+100insC
XR_001742035.1:n.1100+99_1100+100insC
NM_001369.3:c.975+99_975+100insC MANE Select	NP_001360.1:n.975+99_975+100insC