Canonical Allele Identifier: CA2573052432

Gene: DNAH5

Linked Data

• dbSNP Id: rs2126909579

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13793524del , CM000667.2:g.13793524del	GRCh38
NC_000005.9:g.13793633del , CM000667.1:g.13793633del	GRCh37
NC_000005.8:g.13846633del	NCBI36
NG_013081.1:g.155958del
NG_013081.2:g.155958del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8216del MANE Select	ENSP00000265104.4:p.Lys2739ArgfsTer5
ENST00000681290.1:c.8171del	ENSP00000505288.1:p.Lys2724ArgfsTer5
ENST00000265104.4:c.8216del	ENSP00000265104.4:p.Lys2739ArgfsTer5
NM_001369.2:c.8216del	NP_001360.1:p.Lys2739ArgfsTer5
XM_005248262.2:c.8171del	XP_005248319.1:p.Lys2724ArgfsTer5
XM_011513990.1:c.8216del	XP_011512292.1:p.Lys2739ArgfsTer5
XR_925598.1:n.8423del
XM_005248262.3:c.8324del	XP_005248319.2:p.Lys2775ArgfsTer5
XM_017009177.1:c.8324del	XP_016864666.1:p.Lys2775ArgfsTer5
XM_017009178.1:c.7229del	XP_016864667.1:p.Lys2410ArgfsTer5
XM_017009179.2:c.7229del	XP_016864668.1:p.Lys2410ArgfsTer5
XM_017009180.1:c.8324del	XP_016864669.1:p.Lys2775ArgfsTer5
XM_017009181.1:c.8324del	XP_016864670.1:p.Lys2775ArgfsTer5
XM_017009182.1:c.8324del	XP_016864671.1:p.Lys2775ArgfsTer5
XM_017009183.1:c.8324del	XP_016864672.1:p.Lys2775ArgfsTer5
XM_017009184.1:c.8324del	XP_016864673.1:p.Lys2775ArgfsTer5
XM_017009185.1:c.3413del	XP_016864674.1:p.Lys1138ArgfsTer5
XM_017009186.1:c.2966del	XP_016864675.1:p.Lys989ArgfsTer5
XM_017009188.1:c.2303del	XP_016864677.1:p.Lys768ArgfsTer5
XM_024454388.1:c.7229del	XP_024310156.1:p.Lys2410ArgfsTer5
XM_024454389.1:c.6818del	XP_024310157.1:p.Lys2273ArgfsTer5
XR_001742034.1:n.8341del
XR_001742035.1:n.8341del
NM_001369.3:c.8216del MANE Select	NP_001360.1:p.Lys2739ArgfsTer5