Canonical Allele Identifier: CA2580072199

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1724339
• ClinVar RCV Id: RCV002309607

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769099del , CM000667.2:g.13769099del	GRCh38
NC_000005.9:g.13769208del , CM000667.1:g.13769208del	GRCh37
NC_000005.8:g.13822208del	NCBI36
NG_013081.1:g.180385del
NG_013081.2:g.180385del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9761del MANE Select	ENSP00000265104.4:p.Lys3254ArgfsTer9
ENST00000681290.1:c.9716del	ENSP00000505288.1:p.Lys3239ArgfsTer9
ENST00000265104.4:c.9761del	ENSP00000265104.4:p.Lys3254ArgfsTer9
ENST00000504001.3:n.473del
NM_001369.2:c.9761del	NP_001360.1:p.Lys3254ArgfsTer9
XM_005248262.2:c.9716del	XP_005248319.1:p.Lys3239ArgfsTer9
XM_005248262.3:c.9869del	XP_005248319.2:p.Lys3290ArgfsTer9
XM_017009177.1:c.9869del	XP_016864666.1:p.Lys3290ArgfsTer9
XM_017009178.1:c.8774del	XP_016864667.1:p.Lys2925ArgfsTer9
XM_017009179.2:c.8774del	XP_016864668.1:p.Lys2925ArgfsTer9
XM_017009180.1:c.9869del	XP_016864669.1:p.Lys3290ArgfsTer9
XM_017009181.1:c.9869del	XP_016864670.1:p.Lys3290ArgfsTer9
XM_017009182.1:c.9869del	XP_016864671.1:p.Lys3290ArgfsTer9
XM_017009185.1:c.4958del	XP_016864674.1:p.Lys1653ArgfsTer9
XM_017009186.1:c.4511del	XP_016864675.1:p.Lys1504ArgfsTer9
XM_017009188.1:c.3848del	XP_016864677.1:p.Lys1283ArgfsTer9
XM_024454388.1:c.8774del	XP_024310156.1:p.Lys2925ArgfsTer9
XM_024454389.1:c.8363del	XP_024310157.1:p.Lys2788ArgfsTer9
NM_001369.3:c.9761del MANE Select	NP_001360.1:p.Lys3254ArgfsTer9