Canonical Allele Identifier: CA1528395674

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13691625_13691626delinsGC , CM000667.2:g.13691625_13691626delinsGC	GRCh38
NC_000005.9:g.13691734_13691735delinsGC , CM000667.1:g.13691734_13691735delinsGC	GRCh37
NC_000005.8:g.13744734_13744735delinsGC	NCBI36
NG_013081.1:g.257855_257856delinsGC
NG_013081.2:g.257855_257856delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1566_1567delinsGC
ENST00000265104.5:c.*358_*359delinsGC MANE Select	ENSP00000265104.4:n.*358_*359delinsGC
ENST00000681290.1:c.*358_*359delinsGC	ENSP00000505288.1:n.*358_*359delinsGC
ENST00000265104.4:c.*358_*359delinsGC	ENSP00000265104.4:n.*358_*359delinsGC
NM_001369.2:c.*358_*359delinsGC	NP_001360.1:n.*358_*359delinsGC
XM_005248262.2:c.*358_*359delinsGC	XP_005248319.1:n.*358_*359delinsGC
XM_005248262.3:c.*358_*359delinsGC	XP_005248319.2:n.*358_*359delinsGC
XM_017009177.1:c.*358_*359delinsGC	XP_016864666.1:n.*358_*359delinsGC
XM_017009178.1:c.*358_*359delinsGC	XP_016864667.1:n.*358_*359delinsGC
XM_017009179.2:c.*358_*359delinsGC	XP_016864668.1:n.*358_*359delinsGC
XM_017009185.1:c.*358_*359delinsGC	XP_016864674.1:n.*358_*359delinsGC
XM_017009186.1:c.*358_*359delinsGC	XP_016864675.1:n.*358_*359delinsGC
XM_017009188.1:c.*358_*359delinsGC	XP_016864677.1:n.*358_*359delinsGC
XM_024454388.1:c.*358_*359delinsGC	XP_024310156.1:n.*358_*359delinsGC
XM_024454389.1:c.*358_*359delinsGC	XP_024310157.1:n.*358_*359delinsGC
NM_001369.3:c.*358_*359delinsGC MANE Select	NP_001360.1:n.*358_*359delinsGC