Canonical Allele Identifier: CA1528435119

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776533_13776534delinsCT , CM000667.2:g.13776533_13776534delinsCT	GRCh38
NC_000005.9:g.13776642_13776643delinsCT , CM000667.1:g.13776642_13776643delinsCT	GRCh37
NC_000005.8:g.13829642_13829643delinsCT	NCBI36
NG_013081.1:g.172947_172948delinsAG
NG_013081.2:g.172947_172948delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9278_9279delinsAG MANE Select	ENSP00000265104.4:p.Glu3093=
ENST00000681290.1:c.9233_9234delinsAG	ENSP00000505288.1:p.Glu3078=
ENST00000265104.4:c.9278_9279delinsAG	ENSP00000265104.4:p.Glu3093=
NM_001369.2:c.9278_9279delinsAG	NP_001360.1:p.Glu3093=
XM_005248262.2:c.9233_9234delinsAG	XP_005248319.1:p.Glu3078=
XM_005248262.3:c.9386_9387delinsAG	XP_005248319.2:p.Glu3129=
XM_017009177.1:c.9386_9387delinsAG	XP_016864666.1:p.Glu3129=
XM_017009178.1:c.8291_8292delinsAG	XP_016864667.1:p.Glu2764=
XM_017009179.2:c.8291_8292delinsAG	XP_016864668.1:p.Glu2764=
XM_017009180.1:c.9386_9387delinsAG	XP_016864669.1:p.Glu3129=
XM_017009181.1:c.9386_9387delinsAG	XP_016864670.1:p.Glu3129=
XM_017009182.1:c.9386_9387delinsAG	XP_016864671.1:p.Glu3129=
XM_017009183.1:c.9386_9387delinsAG	XP_016864672.1:p.Glu3129=
XM_017009185.1:c.4475_4476delinsAG	XP_016864674.1:p.Glu1492=
XM_017009186.1:c.4028_4029delinsAG	XP_016864675.1:p.Glu1343=
XM_017009188.1:c.3365_3366delinsAG	XP_016864677.1:p.Glu1122=
XM_024454388.1:c.8291_8292delinsAG	XP_024310156.1:p.Glu2764=
XM_024454389.1:c.7880_7881delinsAG	XP_024310157.1:p.Glu2627=
NM_001369.3:c.9278_9279delinsAG MANE Select	NP_001360.1:p.Glu3093=