Canonical Allele Identifier: CA645540999

Gene: DNAH5

Linked Data

• COSMIC: COSM1433437

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776519_13776520del , CM000667.2:g.13776519_13776520del	GRCh38
NC_000005.9:g.13776628_13776629del , CM000667.1:g.13776628_13776629del	GRCh37
NC_000005.8:g.13829628_13829629del	NCBI36
NG_013081.1:g.172963_172964del
NG_013081.2:g.172963_172964del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9294_9295del MANE Select	ENSP00000265104.4:p.Arg3098SerfsTer14
ENST00000681290.1:c.9249_9250del	ENSP00000505288.1:p.Arg3083SerfsTer14
ENST00000265104.4:c.9294_9295del	ENSP00000265104.4:p.Arg3098SerfsTer14
NM_001369.2:c.9294_9295del	NP_001360.1:p.Arg3098SerfsTer14
XM_005248262.2:c.9249_9250del	XP_005248319.1:p.Arg3083SerfsTer14
XM_005248262.3:c.9402_9403del	XP_005248319.2:p.Arg3134SerfsTer14
XM_017009177.1:c.9402_9403del	XP_016864666.1:p.Arg3134SerfsTer14
XM_017009178.1:c.8307_8308del	XP_016864667.1:p.Arg2769SerfsTer14
XM_017009179.2:c.8307_8308del	XP_016864668.1:p.Arg2769SerfsTer14
XM_017009180.1:c.9402_9403del	XP_016864669.1:p.Arg3134SerfsTer14
XM_017009181.1:c.9402_9403del	XP_016864670.1:p.Arg3134SerfsTer14
XM_017009182.1:c.9402_9403del	XP_016864671.1:p.Arg3134SerfsTer14
XM_017009183.1:c.9402_9403del	XP_016864672.1:p.Arg3134SerfsTer14
XM_017009185.1:c.4491_4492del	XP_016864674.1:p.Arg1497SerfsTer14
XM_017009186.1:c.4044_4045del	XP_016864675.1:p.Arg1348SerfsTer14
XM_017009188.1:c.3381_3382del	XP_016864677.1:p.Arg1127SerfsTer14
XM_024454388.1:c.8307_8308del	XP_024310156.1:p.Arg2769SerfsTer14
XM_024454389.1:c.7896_7897del	XP_024310157.1:p.Arg2632SerfsTer14
NM_001369.3:c.9294_9295del MANE Select	NP_001360.1:p.Arg3098SerfsTer14