Canonical Allele Identifier: CA1528483816

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13886032_13886033delinsAC , CM000667.2:g.13886032_13886033delinsAC	GRCh38
NC_000005.9:g.13886141_13886142delinsAC , CM000667.1:g.13886141_13886142delinsAC	GRCh37
NC_000005.8:g.13939141_13939142delinsAC	NCBI36
NG_013081.1:g.63448_63449delinsGT
NG_013081.2:g.63448_63449delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.2674_2675delinsGT MANE Select	ENSP00000265104.4:p.Val892=
ENST00000681290.1:c.2629_2630delinsGT	ENSP00000505288.1:p.Val877=
ENST00000265104.4:c.2674_2675delinsGT	ENSP00000265104.4:p.Val892=
NM_001369.2:c.2674_2675delinsGT	NP_001360.1:p.Val892=
XM_005248262.2:c.2629_2630delinsGT	XP_005248319.1:p.Val877=
XM_011513990.1:c.2674_2675delinsGT	XP_011512292.1:p.Val892=
XR_925598.1:n.2881_2882delinsGT
XM_005248262.3:c.2782_2783delinsGT	XP_005248319.2:p.Val928=
XM_017009177.1:c.2782_2783delinsGT	XP_016864666.1:p.Val928=
XM_017009178.1:c.1687_1688delinsGT	XP_016864667.1:p.Val563=
XM_017009179.2:c.1687_1688delinsGT	XP_016864668.1:p.Val563=
XM_017009180.1:c.2782_2783delinsGT	XP_016864669.1:p.Val928=
XM_017009181.1:c.2782_2783delinsGT	XP_016864670.1:p.Val928=
XM_017009182.1:c.2782_2783delinsGT	XP_016864671.1:p.Val928=
XM_017009183.1:c.2782_2783delinsGT	XP_016864672.1:p.Val928=
XM_017009184.1:c.2782_2783delinsGT	XP_016864673.1:p.Val928=
XM_017009187.1:c.2782_2783delinsGT	XP_016864676.1:p.Val928=
XM_024454388.1:c.1687_1688delinsGT	XP_024310156.1:p.Val563=
XM_024454389.1:c.1276_1277delinsGT	XP_024310157.1:p.Val426=
XR_001742034.1:n.2799_2800delinsGT
XR_001742035.1:n.2799_2800delinsGT
NM_001369.3:c.2674_2675delinsGT MANE Select	NP_001360.1:p.Val892=