Canonical Allele Identifier: CA1528395702

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13691694_13691698delinsGAAGT , CM000667.2:g.13691694_13691698delinsGAAGT	GRCh38
NC_000005.9:g.13691803_13691807delinsGAAGT , CM000667.1:g.13691803_13691807delinsGAAGT	GRCh37
NC_000005.8:g.13744803_13744807delinsGAAGT	NCBI36
NG_013081.1:g.257783_257787delinsACTTC
NG_013081.2:g.257783_257787delinsACTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1494_1498delinsACTTC
ENST00000265104.5:c.*286_*290delinsACTTC MANE Select	ENSP00000265104.4:n.*286_*290delinsACTTC
ENST00000681290.1:c.*286_*290delinsACTTC	ENSP00000505288.1:n.*286_*290delinsACTTC
ENST00000265104.4:c.*286_*290delinsACTTC	ENSP00000265104.4:n.*286_*290delinsACTTC
NM_001369.2:c.*286_*290delinsACTTC	NP_001360.1:n.*286_*290delinsACTTC
XM_005248262.2:c.*286_*290delinsACTTC	XP_005248319.1:n.*286_*290delinsACTTC
XM_005248262.3:c.*286_*290delinsACTTC	XP_005248319.2:n.*286_*290delinsACTTC
XM_017009177.1:c.*286_*290delinsACTTC	XP_016864666.1:n.*286_*290delinsACTTC
XM_017009178.1:c.*286_*290delinsACTTC	XP_016864667.1:n.*286_*290delinsACTTC
XM_017009179.2:c.*286_*290delinsACTTC	XP_016864668.1:n.*286_*290delinsACTTC
XM_017009185.1:c.*286_*290delinsACTTC	XP_016864674.1:n.*286_*290delinsACTTC
XM_017009186.1:c.*286_*290delinsACTTC	XP_016864675.1:n.*286_*290delinsACTTC
XM_017009188.1:c.*286_*290delinsACTTC	XP_016864677.1:n.*286_*290delinsACTTC
XM_024454388.1:c.*286_*290delinsACTTC	XP_024310156.1:n.*286_*290delinsACTTC
XM_024454389.1:c.*286_*290delinsACTTC	XP_024310157.1:n.*286_*290delinsACTTC
NM_001369.3:c.*286_*290delinsACTTC MANE Select	NP_001360.1:n.*286_*290delinsACTTC