Canonical Allele Identifier: CA2580072137

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1725599
• ClinVar RCV Id: RCV002309283

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13792103_13792104del , CM000667.2:g.13792103_13792104del	GRCh38
NC_000005.9:g.13792212_13792213del , CM000667.1:g.13792212_13792213del	GRCh37
NC_000005.8:g.13845212_13845213del	NCBI36
NG_013081.1:g.157379_157380del
NG_013081.2:g.157379_157380del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8340_8341del MANE Select	ENSP00000265104.4:p.Lys2780AsnfsTer13
ENST00000681290.1:c.8295_8296del	ENSP00000505288.1:p.Lys2765AsnfsTer13
ENST00000265104.4:c.8340_8341del	ENSP00000265104.4:p.Lys2780AsnfsTer13
NM_001369.2:c.8340_8341del	NP_001360.1:p.Lys2780AsnfsTer13
XM_005248262.2:c.8295_8296del	XP_005248319.1:p.Lys2765AsnfsTer13
XM_011513990.1:c.8340_8341del	XP_011512292.1:p.Lys2780AsnfsTer13
XR_925598.1:n.8547_8548del
XM_005248262.3:c.8448_8449del	XP_005248319.2:p.Lys2816AsnfsTer13
XM_017009177.1:c.8448_8449del	XP_016864666.1:p.Lys2816AsnfsTer13
XM_017009178.1:c.7353_7354del	XP_016864667.1:p.Lys2451AsnfsTer13
XM_017009179.2:c.7353_7354del	XP_016864668.1:p.Lys2451AsnfsTer13
XM_017009180.1:c.8448_8449del	XP_016864669.1:p.Lys2816AsnfsTer13
XM_017009181.1:c.8448_8449del	XP_016864670.1:p.Lys2816AsnfsTer13
XM_017009182.1:c.8448_8449del	XP_016864671.1:p.Lys2816AsnfsTer13
XM_017009183.1:c.8448_8449del	XP_016864672.1:p.Lys2816AsnfsTer13
XM_017009184.1:c.8448_8449del	XP_016864673.1:p.Lys2816AsnfsTer13
XM_017009185.1:c.3537_3538del	XP_016864674.1:p.Lys1179AsnfsTer13
XM_017009186.1:c.3090_3091del	XP_016864675.1:p.Lys1030AsnfsTer13
XM_017009188.1:c.2427_2428del	XP_016864677.1:p.Lys809AsnfsTer13
XM_024454388.1:c.7353_7354del	XP_024310156.1:p.Lys2451AsnfsTer13
XM_024454389.1:c.6942_6943del	XP_024310157.1:p.Lys2314AsnfsTer13
XR_001742034.1:n.8465_8466del
XR_001742035.1:n.8465_8466del
NM_001369.3:c.8340_8341del MANE Select	NP_001360.1:p.Lys2780AsnfsTer13