Canonical Allele Identifier: CA2765351031

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13885979dup , CM000667.2:g.13885979dup	GRCh38
NC_000005.9:g.13886088dup , CM000667.1:g.13886088dup	GRCh37
NC_000005.8:g.13939088dup	NCBI36
NG_013081.1:g.63506dup
NG_013081.2:g.63506dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.2732dup MANE Select	ENSP00000265104.4:p.Asn911LysfsTer2
ENST00000681290.1:c.2687dup	ENSP00000505288.1:p.Asn896LysfsTer2
ENST00000265104.4:c.2732dup	ENSP00000265104.4:p.Asn911LysfsTer2
NM_001369.2:c.2732dup	NP_001360.1:p.Asn911LysfsTer2
XM_005248262.2:c.2687dup	XP_005248319.1:p.Asn896LysfsTer2
XM_011513990.1:c.2732dup	XP_011512292.1:p.Asn911LysfsTer2
XR_925598.1:n.2939dup
XM_005248262.3:c.2840dup	XP_005248319.2:p.Asn947LysfsTer2
XM_017009177.1:c.2840dup	XP_016864666.1:p.Asn947LysfsTer2
XM_017009178.1:c.1745dup	XP_016864667.1:p.Asn582LysfsTer2
XM_017009179.2:c.1745dup	XP_016864668.1:p.Asn582LysfsTer2
XM_017009180.1:c.2840dup	XP_016864669.1:p.Asn947LysfsTer2
XM_017009181.1:c.2840dup	XP_016864670.1:p.Asn947LysfsTer2
XM_017009182.1:c.2840dup	XP_016864671.1:p.Asn947LysfsTer2
XM_017009183.1:c.2840dup	XP_016864672.1:p.Asn947LysfsTer2
XM_017009184.1:c.2840dup	XP_016864673.1:p.Asn947LysfsTer2
XM_017009187.1:c.2840dup	XP_016864676.1:p.Asn947LysfsTer2
XM_024454388.1:c.1745dup	XP_024310156.1:p.Asn582LysfsTer2
XM_024454389.1:c.1334dup	XP_024310157.1:p.Asn445LysfsTer2
XR_001742034.1:n.2857dup
XR_001742035.1:n.2857dup
NM_001369.3:c.2732dup MANE Select	NP_001360.1:p.Asn911LysfsTer2