Canonical Allele Identifier: CA2673269718

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13768995-TTGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769000_13769002del , CM000667.2:g.13769000_13769002del	GRCh38
NC_000005.9:g.13769109_13769111del , CM000667.1:g.13769109_13769111del	GRCh37
NC_000005.8:g.13822109_13822111del	NCBI36
NG_013081.1:g.180483_180485del
NG_013081.2:g.180483_180485del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9859_9861del MANE Select	ENSP00000265104.4:p.Ala3287del
ENST00000681290.1:c.9814_9816del	ENSP00000505288.1:p.Ala3272del
ENST00000265104.4:c.9859_9861del	ENSP00000265104.4:p.Ala3287del
ENST00000504001.3:n.571_573del
NM_001369.2:c.9859_9861del	NP_001360.1:p.Ala3287del
XM_005248262.2:c.9814_9816del	XP_005248319.1:p.Ala3272del
XM_005248262.3:c.9967_9969del	XP_005248319.2:p.Ala3323del
XM_017009177.1:c.9967_9969del	XP_016864666.1:p.Ala3323del
XM_017009178.1:c.8872_8874del	XP_016864667.1:p.Ala2958del
XM_017009179.2:c.8872_8874del	XP_016864668.1:p.Ala2958del
XM_017009180.1:c.9967_9969del	XP_016864669.1:p.Ala3323del
XM_017009181.1:c.9967_9969del	XP_016864670.1:p.Ala3323del
XM_017009182.1:c.9967_9969del	XP_016864671.1:p.Ala3323del
XM_017009185.1:c.5056_5058del	XP_016864674.1:p.Ala1686del
XM_017009186.1:c.4609_4611del	XP_016864675.1:p.Ala1537del
XM_017009188.1:c.3946_3948del	XP_016864677.1:p.Ala1316del
XM_024454388.1:c.8872_8874del	XP_024310156.1:p.Ala2958del
XM_024454389.1:c.8461_8463del	XP_024310157.1:p.Ala2821del
NM_001369.3:c.9859_9861del MANE Select	NP_001360.1:p.Ala3287del