Canonical Allele Identifier: CA1528457996

Gene: DNAH5

Linked Data

• dbSNP Id: rs1763332115
• gnomAD v4: 5-13829391-TCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13829392_13829393del , CM000667.2:g.13829392_13829393del	GRCh38
NC_000005.9:g.13829501_13829502del , CM000667.1:g.13829501_13829502del	GRCh37
NC_000005.8:g.13882501_13882502del	NCBI36
NG_013081.1:g.120088_120089del
NG_013081.2:g.120088_120089del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683090.1:n.1375+117_1375+118del
ENST00000265104.5:c.6444+117_6444+118del MANE Select	ENSP00000265104.4:n.6444+117_6444+118del
ENST00000681290.1:c.6399+117_6399+118del	ENSP00000505288.1:n.6399+117_6399+118del
ENST00000265104.4:c.6444+117_6444+118del	ENSP00000265104.4:n.6444+117_6444+118del
NM_001369.2:c.6444+117_6444+118del	NP_001360.1:n.6444+117_6444+118del
XM_005248262.2:c.6399+117_6399+118del	XP_005248319.1:n.6399+117_6399+118del
XM_011513990.1:c.6444+117_6444+118del	XP_011512292.1:n.6444+117_6444+118del
XR_925598.1:n.6651+117_6651+118del
XM_005248262.3:c.6552+117_6552+118del	XP_005248319.2:n.6552+117_6552+118del
XM_017009177.1:c.6552+117_6552+118del	XP_016864666.1:n.6552+117_6552+118del
XM_017009178.1:c.5457+117_5457+118del	XP_016864667.1:n.5457+117_5457+118del
XM_017009179.2:c.5457+117_5457+118del	XP_016864668.1:n.5457+117_5457+118del
XM_017009180.1:c.6552+117_6552+118del	XP_016864669.1:n.6552+117_6552+118del
XM_017009181.1:c.6552+117_6552+118del	XP_016864670.1:n.6552+117_6552+118del
XM_017009182.1:c.6552+117_6552+118del	XP_016864671.1:n.6552+117_6552+118del
XM_017009183.1:c.6552+117_6552+118del	XP_016864672.1:n.6552+117_6552+118del
XM_017009184.1:c.6552+117_6552+118del	XP_016864673.1:n.6552+117_6552+118del
XM_017009185.1:c.1641+117_1641+118del	XP_016864674.1:n.1641+117_1641+118del
XM_017009186.1:c.1194+117_1194+118del	XP_016864675.1:n.1194+117_1194+118del
XM_017009187.1:c.6552+117_6552+118del	XP_016864676.1:n.6552+117_6552+118del
XM_017009188.1:c.531+117_531+118del	XP_016864677.1:n.531+117_531+118del
XM_024454388.1:c.5457+117_5457+118del	XP_024310156.1:n.5457+117_5457+118del
XM_024454389.1:c.5046+117_5046+118del	XP_024310157.1:n.5046+117_5046+118del
XR_001742034.1:n.6569+117_6569+118del
XR_001742035.1:n.6569+117_6569+118del
NM_001369.3:c.6444+117_6444+118del MANE Select	NP_001360.1:n.6444+117_6444+118del