Canonical Allele Identifier: CA2673276504

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13871138-A-ATT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13871138_13871139insTT , CM000667.2:g.13871138_13871139insTT	GRCh38
NC_000005.9:g.13871247_13871248insTT , CM000667.1:g.13871247_13871248insTT	GRCh37
NC_000005.8:g.13924247_13924248insTT	NCBI36
NG_013081.1:g.78342_78343insAA
NG_013081.2:g.78342_78343insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.3599-137_3599-136insAA MANE Select	ENSP00000265104.4:n.3599-137_3599-136insAA
ENST00000681290.1:c.3554-137_3554-136insAA	ENSP00000505288.1:n.3554-137_3554-136insAA
ENST00000265104.4:c.3599-137_3599-136insAA	ENSP00000265104.4:n.3599-137_3599-136insAA
NM_001369.2:c.3599-137_3599-136insAA	NP_001360.1:n.3599-137_3599-136insAA
XM_005248262.2:c.3554-137_3554-136insAA	XP_005248319.1:n.3554-137_3554-136insAA
XM_011513990.1:c.3599-137_3599-136insAA	XP_011512292.1:n.3599-137_3599-136insAA
XR_925598.1:n.3806-137_3806-136insAA
XM_005248262.3:c.3707-137_3707-136insAA	XP_005248319.2:n.3707-137_3707-136insAA
XM_017009177.1:c.3707-137_3707-136insAA	XP_016864666.1:n.3707-137_3707-136insAA
XM_017009178.1:c.2612-137_2612-136insAA	XP_016864667.1:n.2612-137_2612-136insAA
XM_017009179.2:c.2612-137_2612-136insAA	XP_016864668.1:n.2612-137_2612-136insAA
XM_017009180.1:c.3707-137_3707-136insAA	XP_016864669.1:n.3707-137_3707-136insAA
XM_017009181.1:c.3707-137_3707-136insAA	XP_016864670.1:n.3707-137_3707-136insAA
XM_017009182.1:c.3707-137_3707-136insAA	XP_016864671.1:n.3707-137_3707-136insAA
XM_017009183.1:c.3707-137_3707-136insAA	XP_016864672.1:n.3707-137_3707-136insAA
XM_017009184.1:c.3707-137_3707-136insAA	XP_016864673.1:n.3707-137_3707-136insAA
XM_017009187.1:c.3707-137_3707-136insAA	XP_016864676.1:n.3707-137_3707-136insAA
XM_024454388.1:c.2612-137_2612-136insAA	XP_024310156.1:n.2612-137_2612-136insAA
XM_024454389.1:c.2201-137_2201-136insAA	XP_024310157.1:n.2201-137_2201-136insAA
XR_001742034.1:n.3724-137_3724-136insAA
XR_001742035.1:n.3724-137_3724-136insAA
NM_001369.3:c.3599-137_3599-136insAA MANE Select	NP_001360.1:n.3599-137_3599-136insAA