Canonical Allele Identifier: CA804422355

Gene: DNAH5

Linked Data

• dbSNP Id: rs1447720364
• gnomAD v3: 5-13770655-TC-T
• gnomAD v4: 5-13770655-TC-T
• MyVariant Identifiers: chr5:g.13770765del (hg19) ; chr5:g.13770656del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13770656del , CM000667.2:g.13770656del	GRCh38
NC_000005.9:g.13770765del , CM000667.1:g.13770765del	GRCh37
NC_000005.8:g.13823765del	NCBI36
NG_013081.1:g.178825del
NG_013081.2:g.178825del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9605+93del MANE Select	ENSP00000265104.4:n.9605+93del
ENST00000681290.1:c.9560+93del	ENSP00000505288.1:n.9560+93del
ENST00000265104.4:c.9605+93del	ENSP00000265104.4:n.9605+93del
ENST00000504001.3:n.317+93del
NM_001369.2:c.9605+93del	NP_001360.1:n.9605+93del
XM_005248262.2:c.9560+93del	XP_005248319.1:n.9560+93del
XM_005248262.3:c.9713+93del	XP_005248319.2:n.9713+93del
XM_017009177.1:c.9713+93del	XP_016864666.1:n.9713+93del
XM_017009178.1:c.8618+93del	XP_016864667.1:n.8618+93del
XM_017009179.2:c.8618+93del	XP_016864668.1:n.8618+93del
XM_017009180.1:c.9713+93del	XP_016864669.1:n.9713+93del
XM_017009181.1:c.9713+93del	XP_016864670.1:n.9713+93del
XM_017009182.1:c.9713+93del	XP_016864671.1:n.9713+93del
XM_017009183.1:c.*89del	XP_016864672.1:n.*89del
XM_017009185.1:c.4802+93del	XP_016864674.1:n.4802+93del
XM_017009186.1:c.4355+93del	XP_016864675.1:n.4355+93del
XM_017009188.1:c.3692+93del	XP_016864677.1:n.3692+93del
XM_024454388.1:c.8618+93del	XP_024310156.1:n.8618+93del
XM_024454389.1:c.8207+93del	XP_024310157.1:n.8207+93del
NM_001369.3:c.9605+93del MANE Select	NP_001360.1:n.9605+93del