Canonical Allele Identifier: CA2580072361

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2007620
• ClinVar RCV Id: RCV002842446

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13770815_13770816delinsAG , CM000667.2:g.13770815_13770816delinsAG	GRCh38
NC_000005.9:g.13770924_13770925delinsAG , CM000667.1:g.13770924_13770925delinsAG	GRCh37
NC_000005.8:g.13823924_13823925delinsAG	NCBI36
NG_013081.1:g.178665_178666delinsCT
NG_013081.2:g.178665_178666delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9538_9539delinsCT MANE Select	ENSP00000265104.4:p.Ser3180Leu
ENST00000681290.1:c.9493_9494delinsCT	ENSP00000505288.1:p.Ser3165Leu
ENST00000265104.4:c.9538_9539delinsCT	ENSP00000265104.4:p.Ser3180Leu
ENST00000504001.3:n.250_251delinsCT
NM_001369.2:c.9538_9539delinsCT	NP_001360.1:p.Ser3180Leu
XM_005248262.2:c.9493_9494delinsCT	XP_005248319.1:p.Ser3165Leu
XM_005248262.3:c.9646_9647delinsCT	XP_005248319.2:p.Ser3216Leu
XM_017009177.1:c.9646_9647delinsCT	XP_016864666.1:p.Ser3216Leu
XM_017009178.1:c.8551_8552delinsCT	XP_016864667.1:p.Ser2851Leu
XM_017009179.2:c.8551_8552delinsCT	XP_016864668.1:p.Ser2851Leu
XM_017009180.1:c.9646_9647delinsCT	XP_016864669.1:p.Ser3216Leu
XM_017009181.1:c.9646_9647delinsCT	XP_016864670.1:p.Ser3216Leu
XM_017009182.1:c.9646_9647delinsCT	XP_016864671.1:p.Ser3216Leu
XM_017009183.1:c.9646_9647delinsCT	XP_016864672.1:p.Ser3216Leu
XM_017009185.1:c.4735_4736delinsCT	XP_016864674.1:p.Ser1579Leu
XM_017009186.1:c.4288_4289delinsCT	XP_016864675.1:p.Ser1430Leu
XM_017009188.1:c.3625_3626delinsCT	XP_016864677.1:p.Ser1209Leu
XM_024454388.1:c.8551_8552delinsCT	XP_024310156.1:p.Ser2851Leu
XM_024454389.1:c.8140_8141delinsCT	XP_024310157.1:p.Ser2714Leu
NM_001369.3:c.9538_9539delinsCT MANE Select	NP_001360.1:p.Ser3180Leu