Canonical Allele Identifier: CA1528458059

Gene: DNAH5

Linked Data

• dbSNP Id: rs1763351648

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13829528_13829530dup , CM000667.2:g.13829528_13829530dup	GRCh38
NC_000005.9:g.13829637_13829639dup , CM000667.1:g.13829637_13829639dup	GRCh37
NC_000005.8:g.13882637_13882639dup	NCBI36
NG_013081.1:g.119954_119956dup
NG_013081.2:g.119954_119956dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683090.1:n.1358_1360dup
ENST00000265104.5:c.6427_6429dup MANE Select	ENSP00000265104.4:p.Glu2143_Gln2144insGlu
ENST00000681290.1:c.6382_6384dup	ENSP00000505288.1:p.Glu2128_Gln2129insGlu
ENST00000265104.4:c.6427_6429dup	ENSP00000265104.4:p.Glu2143_Gln2144insGlu
NM_001369.2:c.6427_6429dup	NP_001360.1:p.Glu2143_Gln2144insGlu
XM_005248262.2:c.6382_6384dup	XP_005248319.1:p.Glu2128_Gln2129insGlu
XM_011513990.1:c.6427_6429dup	XP_011512292.1:p.Glu2143_Gln2144insGlu
XR_925598.1:n.6634_6636dup
XM_005248262.3:c.6535_6537dup	XP_005248319.2:p.Glu2179_Gln2180insGlu
XM_017009177.1:c.6535_6537dup	XP_016864666.1:p.Glu2179_Gln2180insGlu
XM_017009178.1:c.5440_5442dup	XP_016864667.1:p.Glu1814_Gln1815insGlu
XM_017009179.2:c.5440_5442dup	XP_016864668.1:p.Glu1814_Gln1815insGlu
XM_017009180.1:c.6535_6537dup	XP_016864669.1:p.Glu2179_Gln2180insGlu
XM_017009181.1:c.6535_6537dup	XP_016864670.1:p.Glu2179_Gln2180insGlu
XM_017009182.1:c.6535_6537dup	XP_016864671.1:p.Glu2179_Gln2180insGlu
XM_017009183.1:c.6535_6537dup	XP_016864672.1:p.Glu2179_Gln2180insGlu
XM_017009184.1:c.6535_6537dup	XP_016864673.1:p.Glu2179_Gln2180insGlu
XM_017009185.1:c.1624_1626dup	XP_016864674.1:p.Glu542_Gln543insGlu
XM_017009186.1:c.1177_1179dup	XP_016864675.1:p.Glu393_Gln394insGlu
XM_017009187.1:c.6535_6537dup	XP_016864676.1:p.Glu2179_Gln2180insGlu
XM_017009188.1:c.514_516dup	XP_016864677.1:p.Glu172_Gln173insGlu
XM_024454388.1:c.5440_5442dup	XP_024310156.1:p.Glu1814_Gln1815insGlu
XM_024454389.1:c.5029_5031dup	XP_024310157.1:p.Glu1677_Gln1678insGlu
XR_001742034.1:n.6552_6554dup
XR_001742035.1:n.6552_6554dup
NM_001369.3:c.6427_6429dup MANE Select	NP_001360.1:p.Glu2143_Gln2144insGlu