Canonical Allele Identifier: CA2673268735

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13776667-TAATTTCATC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776677_13776685del , CM000667.2:g.13776677_13776685del	GRCh38
NC_000005.9:g.13776786_13776794del , CM000667.1:g.13776786_13776794del	GRCh37
NC_000005.8:g.13829786_13829794del	NCBI36
NG_013081.1:g.172805_172813del
NG_013081.2:g.172805_172813del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9136_9144del MANE Select	ENSP00000265104.4:p.Asp3046_Ile3048del
ENST00000681290.1:c.9091_9099del	ENSP00000505288.1:p.Asp3031_Ile3033del
ENST00000265104.4:c.9136_9144del	ENSP00000265104.4:p.Asp3046_Ile3048del
NM_001369.2:c.9136_9144del	NP_001360.1:p.Asp3046_Ile3048del
XM_005248262.2:c.9091_9099del	XP_005248319.1:p.Asp3031_Ile3033del
XM_011513990.1:c.*23_*31del	XP_011512292.1:n.*23_*31del
XR_925598.1:n.9207_9215del
XM_005248262.3:c.9244_9252del	XP_005248319.2:p.Asp3082_Ile3084del
XM_017009177.1:c.9244_9252del	XP_016864666.1:p.Asp3082_Ile3084del
XM_017009178.1:c.8149_8157del	XP_016864667.1:p.Asp2717_Ile2719del
XM_017009179.2:c.8149_8157del	XP_016864668.1:p.Asp2717_Ile2719del
XM_017009180.1:c.9244_9252del	XP_016864669.1:p.Asp3082_Ile3084del
XM_017009181.1:c.9244_9252del	XP_016864670.1:p.Asp3082_Ile3084del
XM_017009182.1:c.9244_9252del	XP_016864671.1:p.Asp3082_Ile3084del
XM_017009183.1:c.9244_9252del	XP_016864672.1:p.Asp3082_Ile3084del
XM_017009184.1:c.*23_*31del	XP_016864673.1:n.*23_*31del
XM_017009185.1:c.4333_4341del	XP_016864674.1:p.Asp1445_Ile1447del
XM_017009186.1:c.3886_3894del	XP_016864675.1:p.Asp1296_Ile1298del
XM_017009188.1:c.3223_3231del	XP_016864677.1:p.Asp1075_Ile1077del
XM_024454388.1:c.8149_8157del	XP_024310156.1:p.Asp2717_Ile2719del
XM_024454389.1:c.7738_7746del	XP_024310157.1:p.Asp2580_Ile2582del
XR_001742034.1:n.9130_9138del
XR_001742035.1:n.9125_9133del
NM_001369.3:c.9136_9144del MANE Select	NP_001360.1:p.Asp3046_Ile3048del