Canonical Allele Identifier: CA1528435877

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13780910_13780911delinsAC , CM000667.2:g.13780910_13780911delinsAC	GRCh38
NC_000005.9:g.13781019_13781020delinsAC , CM000667.1:g.13781019_13781020delinsAC	GRCh37
NC_000005.8:g.13834019_13834020delinsAC	NCBI36
NG_013081.1:g.168570_168571delinsGT
NG_013081.2:g.168570_168571delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8869_8870delinsGT MANE Select	ENSP00000265104.4:p.Val2957=
ENST00000681290.1:c.8824_8825delinsGT	ENSP00000505288.1:p.Val2942=
ENST00000265104.4:c.8869_8870delinsGT	ENSP00000265104.4:p.Val2957=
NM_001369.2:c.8869_8870delinsGT	NP_001360.1:p.Val2957=
XM_005248262.2:c.8824_8825delinsGT	XP_005248319.1:p.Val2942=
XM_011513990.1:c.8869_8870delinsGT	XP_011512292.1:p.Val2957=
XR_925598.1:n.9028-3556_9028-3555delinsGT
XM_005248262.3:c.8977_8978delinsGT	XP_005248319.2:p.Val2993=
XM_017009177.1:c.8977_8978delinsGT	XP_016864666.1:p.Val2993=
XM_017009178.1:c.7882_7883delinsGT	XP_016864667.1:p.Val2628=
XM_017009179.2:c.7882_7883delinsGT	XP_016864668.1:p.Val2628=
XM_017009180.1:c.8977_8978delinsGT	XP_016864669.1:p.Val2993=
XM_017009181.1:c.8977_8978delinsGT	XP_016864670.1:p.Val2993=
XM_017009182.1:c.8977_8978delinsGT	XP_016864671.1:p.Val2993=
XM_017009183.1:c.8977_8978delinsGT	XP_016864672.1:p.Val2993=
XM_017009184.1:c.8977_8978delinsGT	XP_016864673.1:p.Val2993=
XM_017009185.1:c.4066_4067delinsGT	XP_016864674.1:p.Val1356=
XM_017009186.1:c.3619_3620delinsGT	XP_016864675.1:p.Val1207=
XM_017009188.1:c.2956_2957delinsGT	XP_016864677.1:p.Val986=
XM_024454388.1:c.7882_7883delinsGT	XP_024310156.1:p.Val2628=
XM_024454389.1:c.7471_7472delinsGT	XP_024310157.1:p.Val2491=
XR_001742034.1:n.8946-3556_8946-3555delinsGT
XR_001742035.1:n.8946-3556_8946-3555delinsGT
NM_001369.3:c.8869_8870delinsGT MANE Select	NP_001360.1:p.Val2957=