Canonical Allele Identifier: CA2673276508

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13871141-C-CAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13871142_13871143insAAAAAA , CM000667.2:g.13871142_13871143insAAAAAA	GRCh38
NC_000005.9:g.13871251_13871252insAAAAAA , CM000667.1:g.13871251_13871252insAAAAAA	GRCh37
NC_000005.8:g.13924251_13924252insAAAAAA	NCBI36
NG_013081.1:g.78339_78340insTTTTTT
NG_013081.2:g.78339_78340insTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.3599-140_3599-139insTTTTTT MANE Select	ENSP00000265104.4:n.3599-140_3599-139insTTTTTT
ENST00000681290.1:c.3554-140_3554-139insTTTTTT	ENSP00000505288.1:n.3554-140_3554-139insTTTTTT
ENST00000265104.4:c.3599-140_3599-139insTTTTTT	ENSP00000265104.4:n.3599-140_3599-139insTTTTTT
NM_001369.2:c.3599-140_3599-139insTTTTTT	NP_001360.1:n.3599-140_3599-139insTTTTTT
XM_005248262.2:c.3554-140_3554-139insTTTTTT	XP_005248319.1:n.3554-140_3554-139insTTTTTT
XM_011513990.1:c.3599-140_3599-139insTTTTTT	XP_011512292.1:n.3599-140_3599-139insTTTTTT
XR_925598.1:n.3806-140_3806-139insTTTTTT
XM_005248262.3:c.3707-140_3707-139insTTTTTT	XP_005248319.2:n.3707-140_3707-139insTTTTTT
XM_017009177.1:c.3707-140_3707-139insTTTTTT	XP_016864666.1:n.3707-140_3707-139insTTTTTT
XM_017009178.1:c.2612-140_2612-139insTTTTTT	XP_016864667.1:n.2612-140_2612-139insTTTTTT
XM_017009179.2:c.2612-140_2612-139insTTTTTT	XP_016864668.1:n.2612-140_2612-139insTTTTTT
XM_017009180.1:c.3707-140_3707-139insTTTTTT	XP_016864669.1:n.3707-140_3707-139insTTTTTT
XM_017009181.1:c.3707-140_3707-139insTTTTTT	XP_016864670.1:n.3707-140_3707-139insTTTTTT
XM_017009182.1:c.3707-140_3707-139insTTTTTT	XP_016864671.1:n.3707-140_3707-139insTTTTTT
XM_017009183.1:c.3707-140_3707-139insTTTTTT	XP_016864672.1:n.3707-140_3707-139insTTTTTT
XM_017009184.1:c.3707-140_3707-139insTTTTTT	XP_016864673.1:n.3707-140_3707-139insTTTTTT
XM_017009187.1:c.3707-140_3707-139insTTTTTT	XP_016864676.1:n.3707-140_3707-139insTTTTTT
XM_024454388.1:c.2612-140_2612-139insTTTTTT	XP_024310156.1:n.2612-140_2612-139insTTTTTT
XM_024454389.1:c.2201-140_2201-139insTTTTTT	XP_024310157.1:n.2201-140_2201-139insTTTTTT
XR_001742034.1:n.3724-140_3724-139insTTTTTT
XR_001742035.1:n.3724-140_3724-139insTTTTTT
NM_001369.3:c.3599-140_3599-139insTTTTTT MANE Select	NP_001360.1:n.3599-140_3599-139insTTTTTT