Canonical Allele Identifier: CA1528435275

Gene: DNAH5

Linked Data

• dbSNP Id: rs1754124827

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776603_13776615del , CM000667.2:g.13776603_13776615del	GRCh38
NC_000005.9:g.13776712_13776724del , CM000667.1:g.13776712_13776724del	GRCh37
NC_000005.8:g.13829712_13829724del	NCBI36
NG_013081.1:g.172866_172878del
NG_013081.2:g.172866_172878del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9197_9209del MANE Select	ENSP00000265104.4:p.Thr3066SerfsTer6
ENST00000681290.1:c.9152_9164del	ENSP00000505288.1:p.Thr3051SerfsTer6
ENST00000265104.4:c.9197_9209del	ENSP00000265104.4:p.Thr3066SerfsTer6
NM_001369.2:c.9197_9209del	NP_001360.1:p.Thr3066SerfsTer6
XM_005248262.2:c.9152_9164del	XP_005248319.1:p.Thr3051SerfsTer6
XM_005248262.3:c.9305_9317del	XP_005248319.2:p.Thr3102SerfsTer6
XM_017009177.1:c.9305_9317del	XP_016864666.1:p.Thr3102SerfsTer6
XM_017009178.1:c.8210_8222del	XP_016864667.1:p.Thr2737SerfsTer6
XM_017009179.2:c.8210_8222del	XP_016864668.1:p.Thr2737SerfsTer6
XM_017009180.1:c.9305_9317del	XP_016864669.1:p.Thr3102SerfsTer6
XM_017009181.1:c.9305_9317del	XP_016864670.1:p.Thr3102SerfsTer6
XM_017009182.1:c.9305_9317del	XP_016864671.1:p.Thr3102SerfsTer6
XM_017009183.1:c.9305_9317del	XP_016864672.1:p.Thr3102SerfsTer6
XM_017009185.1:c.4394_4406del	XP_016864674.1:p.Thr1465SerfsTer6
XM_017009186.1:c.3947_3959del	XP_016864675.1:p.Thr1316SerfsTer6
XM_017009188.1:c.3284_3296del	XP_016864677.1:p.Thr1095SerfsTer6
XM_024454388.1:c.8210_8222del	XP_024310156.1:p.Thr2737SerfsTer6
XM_024454389.1:c.7799_7811del	XP_024310157.1:p.Thr2600SerfsTer6
NM_001369.3:c.9197_9209del MANE Select	NP_001360.1:p.Thr3066SerfsTer6