Canonical Allele Identifier: CA1073408020

Gene: DNAH5

Linked Data

• dbSNP Id: rs1752962088
• gnomAD v3: 5-13769254-T-TG
• gnomAD v4: 5-13769254-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769254_13769255insG , CM000667.2:g.13769254_13769255insG	GRCh38
NC_000005.9:g.13769363_13769364insG , CM000667.1:g.13769363_13769364insG	GRCh37
NC_000005.8:g.13822363_13822364insG	NCBI36
NG_013081.1:g.180226_180227insC
NG_013081.2:g.180226_180227insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9721-119_9721-118insC MANE Select	ENSP00000265104.4:n.9721-119_9721-118insC
ENST00000681290.1:c.9676-119_9676-118insC	ENSP00000505288.1:n.9676-119_9676-118insC
ENST00000265104.4:c.9721-119_9721-118insC	ENSP00000265104.4:n.9721-119_9721-118insC
ENST00000504001.3:n.433-119_433-118insC
NM_001369.2:c.9721-119_9721-118insC	NP_001360.1:n.9721-119_9721-118insC
XM_005248262.2:c.9676-119_9676-118insC	XP_005248319.1:n.9676-119_9676-118insC
XM_005248262.3:c.9829-119_9829-118insC	XP_005248319.2:n.9829-119_9829-118insC
XM_017009177.1:c.9829-119_9829-118insC	XP_016864666.1:n.9829-119_9829-118insC
XM_017009178.1:c.8734-119_8734-118insC	XP_016864667.1:n.8734-119_8734-118insC
XM_017009179.2:c.8734-119_8734-118insC	XP_016864668.1:n.8734-119_8734-118insC
XM_017009180.1:c.9829-119_9829-118insC	XP_016864669.1:n.9829-119_9829-118insC
XM_017009181.1:c.9829-119_9829-118insC	XP_016864670.1:n.9829-119_9829-118insC
XM_017009182.1:c.9829-119_9829-118insC	XP_016864671.1:n.9829-119_9829-118insC
XM_017009185.1:c.4918-119_4918-118insC	XP_016864674.1:n.4918-119_4918-118insC
XM_017009186.1:c.4471-119_4471-118insC	XP_016864675.1:n.4471-119_4471-118insC
XM_017009188.1:c.3808-119_3808-118insC	XP_016864677.1:n.3808-119_3808-118insC
XM_024454388.1:c.8734-119_8734-118insC	XP_024310156.1:n.8734-119_8734-118insC
XM_024454389.1:c.8323-119_8323-118insC	XP_024310157.1:n.8323-119_8323-118insC
NM_001369.3:c.9721-119_9721-118insC MANE Select	NP_001360.1:n.9721-119_9721-118insC