Canonical Allele Identifier: CA1528441685

Gene: DNAH5

Linked Data

• dbSNP Id: rs1757364598

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13793646_13793647del , CM000667.2:g.13793646_13793647del	GRCh38
NC_000005.9:g.13793755_13793756del , CM000667.1:g.13793755_13793756del	GRCh37
NC_000005.8:g.13846755_13846756del	NCBI36
NG_013081.1:g.155835_155836del
NG_013081.2:g.155835_155836del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8093_8094del MANE Select	ENSP00000265104.4:p.Val2698GlyfsTer17
ENST00000681290.1:c.8048_8049del	ENSP00000505288.1:p.Val2683GlyfsTer17
ENST00000265104.4:c.8093_8094del	ENSP00000265104.4:p.Val2698GlyfsTer17
NM_001369.2:c.8093_8094del	NP_001360.1:p.Val2698GlyfsTer17
XM_005248262.2:c.8048_8049del	XP_005248319.1:p.Val2683GlyfsTer17
XM_011513990.1:c.8093_8094del	XP_011512292.1:p.Val2698GlyfsTer17
XR_925598.1:n.8300_8301del
XM_005248262.3:c.8201_8202del	XP_005248319.2:p.Val2734GlyfsTer17
XM_017009177.1:c.8201_8202del	XP_016864666.1:p.Val2734GlyfsTer17
XM_017009178.1:c.7106_7107del	XP_016864667.1:p.Val2369GlyfsTer17
XM_017009179.2:c.7106_7107del	XP_016864668.1:p.Val2369GlyfsTer17
XM_017009180.1:c.8201_8202del	XP_016864669.1:p.Val2734GlyfsTer17
XM_017009181.1:c.8201_8202del	XP_016864670.1:p.Val2734GlyfsTer17
XM_017009182.1:c.8201_8202del	XP_016864671.1:p.Val2734GlyfsTer17
XM_017009183.1:c.8201_8202del	XP_016864672.1:p.Val2734GlyfsTer17
XM_017009184.1:c.8201_8202del	XP_016864673.1:p.Val2734GlyfsTer17
XM_017009185.1:c.3290_3291del	XP_016864674.1:p.Val1097GlyfsTer17
XM_017009186.1:c.2843_2844del	XP_016864675.1:p.Val948GlyfsTer17
XM_017009188.1:c.2180_2181del	XP_016864677.1:p.Val727GlyfsTer17
XM_024454388.1:c.7106_7107del	XP_024310156.1:p.Val2369GlyfsTer17
XM_024454389.1:c.6695_6696del	XP_024310157.1:p.Val2232GlyfsTer17
XR_001742034.1:n.8218_8219del
XR_001742035.1:n.8218_8219del
NM_001369.3:c.8093_8094del MANE Select	NP_001360.1:p.Val2698GlyfsTer17