Canonical Allele Identifier: CA16611872
Gene: DNAH5 HGNC NCBI

Linked Data

ClinVar Variation Id: 407228
ClinVar RCV Id: RCV000477558
dbSNP Id: rs1060501457

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13829680_13829681delinsT , CM000667.2:g.13829680_13829681delinsT GRCh38
NC_000005.9:g.13829789_13829790delinsT , CM000667.1:g.13829789_13829790delinsT GRCh37
NC_000005.8:g.13882789_13882790delinsT NCBI36
NG_013081.1:g.119800_119801delinsA
NG_013081.2:g.119800_119801delinsA

Transcript Alleles

HGVS Amino-acid change
ENST00000683090.1:n.1204_1205delinsA
ENST00000265104.5:c.6273_6274delinsA MANE Select ENSP00000265104.4:p.Glu2092AsnfsTer6
ENST00000681290.1:c.6228_6229delinsA ENSP00000505288.1:p.Glu2077AsnfsTer6
ENST00000265104.4:c.6273_6274delinsA ENSP00000265104.4:p.Glu2092AsnfsTer6
NM_001369.2:c.6273_6274delinsA NP_001360.1:p.Glu2092AsnfsTer6
XM_005248262.2:c.6228_6229delinsA XP_005248319.1:p.Glu2077AsnfsTer6
XM_011513990.1:c.6273_6274delinsA XP_011512292.1:p.Glu2092AsnfsTer6
XR_925598.1:n.6480_6481delinsA
XM_005248262.3:c.6381_6382delinsA XP_005248319.2:p.Glu2128AsnfsTer6
XM_017009177.1:c.6381_6382delinsA XP_016864666.1:p.Glu2128AsnfsTer6
XM_017009178.1:c.5286_5287delinsA XP_016864667.1:p.Glu1763AsnfsTer6
XM_017009179.2:c.5286_5287delinsA XP_016864668.1:p.Glu1763AsnfsTer6
XM_017009180.1:c.6381_6382delinsA XP_016864669.1:p.Glu2128AsnfsTer6
XM_017009181.1:c.6381_6382delinsA XP_016864670.1:p.Glu2128AsnfsTer6
XM_017009182.1:c.6381_6382delinsA XP_016864671.1:p.Glu2128AsnfsTer6
XM_017009183.1:c.6381_6382delinsA XP_016864672.1:p.Glu2128AsnfsTer6
XM_017009184.1:c.6381_6382delinsA XP_016864673.1:p.Glu2128AsnfsTer6
XM_017009185.1:c.1470_1471delinsA XP_016864674.1:p.Glu491AsnfsTer6
XM_017009186.1:c.1023_1024delinsA XP_016864675.1:p.Glu342AsnfsTer6
XM_017009187.1:c.6381_6382delinsA XP_016864676.1:p.Glu2128AsnfsTer6
XM_017009188.1:c.360_361delinsA XP_016864677.1:p.Glu121AsnfsTer6
XM_024454388.1:c.5286_5287delinsA XP_024310156.1:p.Glu1763AsnfsTer6
XM_024454389.1:c.4875_4876delinsA XP_024310157.1:p.Glu1626AsnfsTer6
XR_001742034.1:n.6398_6399delinsA
XR_001742035.1:n.6398_6399delinsA
NM_001369.3:c.6273_6274delinsA MANE Select NP_001360.1:p.Glu2092AsnfsTer6