Canonical Allele Identifier: CA2673276439

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13870874-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13870877del , CM000667.2:g.13870877del	GRCh38
NC_000005.9:g.13870986del , CM000667.1:g.13870986del	GRCh37
NC_000005.8:g.13923986del	NCBI36
NG_013081.1:g.78606del
NG_013081.2:g.78606del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.3726del MANE Select	ENSP00000265104.4:p.Lys1242AsnfsTer2
ENST00000681290.1:c.3681del	ENSP00000505288.1:p.Lys1227AsnfsTer2
ENST00000265104.4:c.3726del	ENSP00000265104.4:p.Lys1242AsnfsTer2
NM_001369.2:c.3726del	NP_001360.1:p.Lys1242AsnfsTer2
XM_005248262.2:c.3681del	XP_005248319.1:p.Lys1227AsnfsTer2
XM_011513990.1:c.3726del	XP_011512292.1:p.Lys1242AsnfsTer2
XR_925598.1:n.3933del
XM_005248262.3:c.3834del	XP_005248319.2:p.Lys1278AsnfsTer2
XM_017009177.1:c.3834del	XP_016864666.1:p.Lys1278AsnfsTer2
XM_017009178.1:c.2739del	XP_016864667.1:p.Lys913AsnfsTer2
XM_017009179.2:c.2739del	XP_016864668.1:p.Lys913AsnfsTer2
XM_017009180.1:c.3834del	XP_016864669.1:p.Lys1278AsnfsTer2
XM_017009181.1:c.3834del	XP_016864670.1:p.Lys1278AsnfsTer2
XM_017009182.1:c.3834del	XP_016864671.1:p.Lys1278AsnfsTer2
XM_017009183.1:c.3834del	XP_016864672.1:p.Lys1278AsnfsTer2
XM_017009184.1:c.3834del	XP_016864673.1:p.Lys1278AsnfsTer2
XM_017009187.1:c.3834del	XP_016864676.1:p.Lys1278AsnfsTer2
XM_024454388.1:c.2739del	XP_024310156.1:p.Lys913AsnfsTer2
XM_024454389.1:c.2328del	XP_024310157.1:p.Lys776AsnfsTer2
XR_001742034.1:n.3851del
XR_001742035.1:n.3851del
NM_001369.3:c.3726del MANE Select	NP_001360.1:p.Lys1242AsnfsTer2