Canonical Allele Identifier: CA2500948520

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13876784dup , CM000667.2:g.13876784dup	GRCh38
NC_000005.9:g.13876893dup , CM000667.1:g.13876893dup	GRCh37
NC_000005.8:g.13929893dup	NCBI36
NG_013081.1:g.72698dup
NG_013081.2:g.72698dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.3297dup MANE Select	ENSP00000265104.4:p.Pro1100SerfsTer9
ENST00000681290.1:c.3252dup	ENSP00000505288.1:p.Pro1085SerfsTer9
ENST00000265104.4:c.3297dup	ENSP00000265104.4:p.Pro1100SerfsTer9
NM_001369.2:c.3297dup	NP_001360.1:p.Pro1100SerfsTer9
XM_005248262.2:c.3252dup	XP_005248319.1:p.Pro1085SerfsTer9
XM_011513990.1:c.3297dup	XP_011512292.1:p.Pro1100SerfsTer9
XR_925598.1:n.3504dup
XM_005248262.3:c.3405dup	XP_005248319.2:p.Pro1136SerfsTer9
XM_017009177.1:c.3405dup	XP_016864666.1:p.Pro1136SerfsTer9
XM_017009178.1:c.2310dup	XP_016864667.1:p.Pro771SerfsTer9
XM_017009179.2:c.2310dup	XP_016864668.1:p.Pro771SerfsTer9
XM_017009180.1:c.3405dup	XP_016864669.1:p.Pro1136SerfsTer9
XM_017009181.1:c.3405dup	XP_016864670.1:p.Pro1136SerfsTer9
XM_017009182.1:c.3405dup	XP_016864671.1:p.Pro1136SerfsTer9
XM_017009183.1:c.3405dup	XP_016864672.1:p.Pro1136SerfsTer9
XM_017009184.1:c.3405dup	XP_016864673.1:p.Pro1136SerfsTer9
XM_017009187.1:c.3405dup	XP_016864676.1:p.Pro1136SerfsTer9
XM_024454388.1:c.2310dup	XP_024310156.1:p.Pro771SerfsTer9
XM_024454389.1:c.1899dup	XP_024310157.1:p.Pro634SerfsTer9
XR_001742034.1:n.3422dup
XR_001742035.1:n.3422dup
NM_001369.3:c.3297dup MANE Select	NP_001360.1:p.Pro1100SerfsTer9