Canonical Allele Identifier: CA1073405743

Gene: DNAH5

Linked Data

• dbSNP Id: rs1752266562
• gnomAD v3: 5-13764681-AT-A
• gnomAD v4: 5-13764681-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13764683del , CM000667.2:g.13764683del	GRCh38
NC_000005.9:g.13764792del , CM000667.1:g.13764792del	GRCh37
NC_000005.8:g.13817792del	NCBI36
NG_013081.1:g.184799del
NG_013081.2:g.184799del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10101+1294del MANE Select	ENSP00000265104.4:n.10101+1294del
ENST00000681290.1:c.10056+1294del	ENSP00000505288.1:n.10056+1294del
ENST00000265104.4:c.10101+1294del	ENSP00000265104.4:n.10101+1294del
ENST00000504001.3:n.610-1781del
NM_001369.2:c.10101+1294del	NP_001360.1:n.10101+1294del
XM_005248262.2:c.10056+1294del	XP_005248319.1:n.10056+1294del
XM_005248262.3:c.10209+1294del	XP_005248319.2:n.10209+1294del
XM_017009177.1:c.10209+1294del	XP_016864666.1:n.10209+1294del
XM_017009178.1:c.9114+1294del	XP_016864667.1:n.9114+1294del
XM_017009179.2:c.9114+1294del	XP_016864668.1:n.9114+1294del
XM_017009180.1:c.10209+1294del	XP_016864669.1:n.10209+1294del
XM_017009181.1:c.10209+1294del	XP_016864670.1:n.10209+1294del
XM_017009182.1:c.10209+1294del	XP_016864671.1:n.10209+1294del
XM_017009185.1:c.5298+1294del	XP_016864674.1:n.5298+1294del
XM_017009186.1:c.4851+1294del	XP_016864675.1:n.4851+1294del
XM_017009188.1:c.4188+1294del	XP_016864677.1:n.4188+1294del
XM_024454388.1:c.9114+1294del	XP_024310156.1:n.9114+1294del
XM_024454389.1:c.8703+1294del	XP_024310157.1:n.8703+1294del
NM_001369.3:c.10101+1294del MANE Select	NP_001360.1:n.10101+1294del