Canonical Allele Identifier: CA3260266824

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13810192_13810193delinsAA , CM000667.2:g.13810192_13810193delinsAA	GRCh38
NC_000005.9:g.13810301_13810302delinsAA , CM000667.1:g.13810301_13810302delinsAA	GRCh37
NC_000005.8:g.13863301_13863302delinsAA	NCBI36
NG_013081.1:g.139288_139289delinsTT
NG_013081.2:g.139288_139289delinsTT

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.7475_7476delinsTT MANE Select	NP_001360.1:p.Ala2492Val
ENST00000265104.5:c.7475_7476delinsTT MANE Select	ENSP00000265104.4:p.Ala2492Val
NM_001369.2:c.7475_7476delinsTT	NP_001360.1:p.Ala2492Val
ENST00000265104.4:c.7475_7476delinsTT	ENSP00000265104.4:p.Ala2492Val
ENST00000512443.1:n.331_332delinsTT
ENST00000681290.1:c.7430_7431delinsTT	ENSP00000505288.1:p.Ala2477Val
XM_005248262.2:c.7430_7431delinsTT	XP_005248319.1:p.Ala2477Val
XM_005248262.3:c.7583_7584delinsTT	XP_005248319.2:p.Ala2528Val
XM_011513990.1:c.7475_7476delinsTT	XP_011512292.1:p.Ala2492Val
XM_017009177.1:c.7583_7584delinsTT	XP_016864666.1:p.Ala2528Val
XM_017009178.1:c.6488_6489delinsTT	XP_016864667.1:p.Ala2163Val
XM_017009179.2:c.6488_6489delinsTT	XP_016864668.1:p.Ala2163Val
XM_017009180.1:c.7583_7584delinsTT	XP_016864669.1:p.Ala2528Val
XM_017009181.1:c.7583_7584delinsTT	XP_016864670.1:p.Ala2528Val
XM_017009182.1:c.7583_7584delinsTT	XP_016864671.1:p.Ala2528Val
XM_017009183.1:c.7583_7584delinsTT	XP_016864672.1:p.Ala2528Val
XM_017009184.1:c.7583_7584delinsTT	XP_016864673.1:p.Ala2528Val
XM_017009185.1:c.2672_2673delinsTT	XP_016864674.1:p.Ala891Val
XM_017009186.1:c.2225_2226delinsTT	XP_016864675.1:p.Ala742Val
XM_017009187.1:c.7583_7584delinsTT	XP_016864676.1:p.Ala2528Val
XM_017009188.1:c.1562_1563delinsTT	XP_016864677.1:p.Ala521Val
XM_024454388.1:c.6488_6489delinsTT	XP_024310156.1:p.Ala2163Val
XM_024454389.1:c.6077_6078delinsTT	XP_024310157.1:p.Ala2026Val
XR_001742034.1:n.7600_7601delinsTT
XR_001742035.1:n.7600_7601delinsTT
XR_925598.1:n.7682_7683delinsTT