Canonical Allele Identifier: CA2765334568

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13793575del , CM000667.2:g.13793575del	GRCh38
NC_000005.9:g.13793684del , CM000667.1:g.13793684del	GRCh37
NC_000005.8:g.13846684del	NCBI36
NG_013081.1:g.155906del
NG_013081.2:g.155906del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8164del MANE Select	ENSP00000265104.4:p.Arg2722GlyfsTer22
ENST00000681290.1:c.8119del	ENSP00000505288.1:p.Arg2707GlyfsTer22
ENST00000265104.4:c.8164del	ENSP00000265104.4:p.Arg2722GlyfsTer22
NM_001369.2:c.8164del	NP_001360.1:p.Arg2722GlyfsTer22
XM_005248262.2:c.8119del	XP_005248319.1:p.Arg2707GlyfsTer22
XM_011513990.1:c.8164del	XP_011512292.1:p.Arg2722GlyfsTer22
XR_925598.1:n.8371del
XM_005248262.3:c.8272del	XP_005248319.2:p.Arg2758GlyfsTer22
XM_017009177.1:c.8272del	XP_016864666.1:p.Arg2758GlyfsTer22
XM_017009178.1:c.7177del	XP_016864667.1:p.Arg2393GlyfsTer22
XM_017009179.2:c.7177del	XP_016864668.1:p.Arg2393GlyfsTer22
XM_017009180.1:c.8272del	XP_016864669.1:p.Arg2758GlyfsTer22
XM_017009181.1:c.8272del	XP_016864670.1:p.Arg2758GlyfsTer22
XM_017009182.1:c.8272del	XP_016864671.1:p.Arg2758GlyfsTer22
XM_017009183.1:c.8272del	XP_016864672.1:p.Arg2758GlyfsTer22
XM_017009184.1:c.8272del	XP_016864673.1:p.Arg2758GlyfsTer22
XM_017009185.1:c.3361del	XP_016864674.1:p.Arg1121GlyfsTer22
XM_017009186.1:c.2914del	XP_016864675.1:p.Arg972GlyfsTer22
XM_017009188.1:c.2251del	XP_016864677.1:p.Arg751GlyfsTer22
XM_024454388.1:c.7177del	XP_024310156.1:p.Arg2393GlyfsTer22
XM_024454389.1:c.6766del	XP_024310157.1:p.Arg2256GlyfsTer22
XR_001742034.1:n.8289del
XR_001742035.1:n.8289del
NM_001369.3:c.8164del MANE Select	NP_001360.1:p.Arg2722GlyfsTer22