Canonical Allele Identifier: CA2673276498

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13871129-ACTGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13871130_13871133del , CM000667.2:g.13871130_13871133del	GRCh38
NC_000005.9:g.13871239_13871242del , CM000667.1:g.13871239_13871242del	GRCh37
NC_000005.8:g.13924239_13924242del	NCBI36
NG_013081.1:g.78348_78351del
NG_013081.2:g.78348_78351del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.3599-131_3599-128del MANE Select	ENSP00000265104.4:n.3599-131_3599-128del
ENST00000681290.1:c.3554-131_3554-128del	ENSP00000505288.1:n.3554-131_3554-128del
ENST00000265104.4:c.3599-131_3599-128del	ENSP00000265104.4:n.3599-131_3599-128del
NM_001369.2:c.3599-131_3599-128del	NP_001360.1:n.3599-131_3599-128del
XM_005248262.2:c.3554-131_3554-128del	XP_005248319.1:n.3554-131_3554-128del
XM_011513990.1:c.3599-131_3599-128del	XP_011512292.1:n.3599-131_3599-128del
XR_925598.1:n.3806-131_3806-128del
XM_005248262.3:c.3707-131_3707-128del	XP_005248319.2:n.3707-131_3707-128del
XM_017009177.1:c.3707-131_3707-128del	XP_016864666.1:n.3707-131_3707-128del
XM_017009178.1:c.2612-131_2612-128del	XP_016864667.1:n.2612-131_2612-128del
XM_017009179.2:c.2612-131_2612-128del	XP_016864668.1:n.2612-131_2612-128del
XM_017009180.1:c.3707-131_3707-128del	XP_016864669.1:n.3707-131_3707-128del
XM_017009181.1:c.3707-131_3707-128del	XP_016864670.1:n.3707-131_3707-128del
XM_017009182.1:c.3707-131_3707-128del	XP_016864671.1:n.3707-131_3707-128del
XM_017009183.1:c.3707-131_3707-128del	XP_016864672.1:n.3707-131_3707-128del
XM_017009184.1:c.3707-131_3707-128del	XP_016864673.1:n.3707-131_3707-128del
XM_017009187.1:c.3707-131_3707-128del	XP_016864676.1:n.3707-131_3707-128del
XM_024454388.1:c.2612-131_2612-128del	XP_024310156.1:n.2612-131_2612-128del
XM_024454389.1:c.2201-131_2201-128del	XP_024310157.1:n.2201-131_2201-128del
XR_001742034.1:n.3724-131_3724-128del
XR_001742035.1:n.3724-131_3724-128del
NM_001369.3:c.3599-131_3599-128del MANE Select	NP_001360.1:n.3599-131_3599-128del