Canonical Allele Identifier: CA2673266102

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13692029-TTCAGGGGTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692031_13692039del , CM000667.2:g.13692031_13692039del	GRCh38
NC_000005.9:g.13692140_13692148del , CM000667.1:g.13692140_13692148del	GRCh37
NC_000005.8:g.13745140_13745148del	NCBI36
NG_013081.1:g.257443_257451del
NG_013081.2:g.257443_257451del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1154_1162del
ENST00000265104.5:c.13821_13829del MANE Select	ENSP00000265104.4:p.Thr4608_Glu4610del
ENST00000681290.1:c.13776_13784del	ENSP00000505288.1:p.Thr4593_Glu4595del
ENST00000265104.4:c.13821_13829del	ENSP00000265104.4:p.Thr4608_Glu4610del
NM_001369.2:c.13821_13829del	NP_001360.1:p.Thr4608_Glu4610del
XM_005248262.2:c.13776_13784del	XP_005248319.1:p.Thr4593_Glu4595del
XM_005248262.3:c.13929_13937del	XP_005248319.2:p.Thr4644_Glu4646del
XM_017009177.1:c.13509_13517del	XP_016864666.1:p.Thr4504_Glu4506del
XM_017009178.1:c.12834_12842del	XP_016864667.1:p.Thr4279_Glu4281del
XM_017009179.2:c.12834_12842del	XP_016864668.1:p.Thr4279_Glu4281del
XM_017009185.1:c.9018_9026del	XP_016864674.1:p.Thr3007_Glu3009del
XM_017009186.1:c.8571_8579del	XP_016864675.1:p.Thr2858_Glu2860del
XM_017009188.1:c.7908_7916del	XP_016864677.1:p.Thr2637_Glu2639del
XM_024454388.1:c.12834_12842del	XP_024310156.1:p.Thr4279_Glu4281del
XM_024454389.1:c.12423_12431del	XP_024310157.1:p.Thr4142_Glu4144del
NM_001369.3:c.13821_13829del MANE Select	NP_001360.1:p.Thr4608_Glu4610del