Canonical Allele Identifier: CA2673268734

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13776537-CCCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776539_13776541del , CM000667.2:g.13776539_13776541del	GRCh38
NC_000005.9:g.13776648_13776650del , CM000667.1:g.13776648_13776650del	GRCh37
NC_000005.8:g.13829648_13829650del	NCBI36
NG_013081.1:g.172941_172943del
NG_013081.2:g.172941_172943del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9272_9274del MANE Select	ENSP00000265104.4:p.Val3091del
ENST00000681290.1:c.9227_9229del	ENSP00000505288.1:p.Val3076del
ENST00000265104.4:c.9272_9274del	ENSP00000265104.4:p.Val3091del
NM_001369.2:c.9272_9274del	NP_001360.1:p.Val3091del
XM_005248262.2:c.9227_9229del	XP_005248319.1:p.Val3076del
XM_005248262.3:c.9380_9382del	XP_005248319.2:p.Val3127del
XM_017009177.1:c.9380_9382del	XP_016864666.1:p.Val3127del
XM_017009178.1:c.8285_8287del	XP_016864667.1:p.Val2762del
XM_017009179.2:c.8285_8287del	XP_016864668.1:p.Val2762del
XM_017009180.1:c.9380_9382del	XP_016864669.1:p.Val3127del
XM_017009181.1:c.9380_9382del	XP_016864670.1:p.Val3127del
XM_017009182.1:c.9380_9382del	XP_016864671.1:p.Val3127del
XM_017009183.1:c.9380_9382del	XP_016864672.1:p.Val3127del
XM_017009185.1:c.4469_4471del	XP_016864674.1:p.Val1490del
XM_017009186.1:c.4022_4024del	XP_016864675.1:p.Val1341del
XM_017009188.1:c.3359_3361del	XP_016864677.1:p.Val1120del
XM_024454388.1:c.8285_8287del	XP_024310156.1:p.Val2762del
XM_024454389.1:c.7874_7876del	XP_024310157.1:p.Val2625del
NM_001369.3:c.9272_9274del MANE Select	NP_001360.1:p.Val3091del