Canonical Allele Identifier: CA1528395848

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692021_13692022delinsAC , CM000667.2:g.13692021_13692022delinsAC	GRCh38
NC_000005.9:g.13692130_13692131delinsAC , CM000667.1:g.13692130_13692131delinsAC	GRCh37
NC_000005.8:g.13745130_13745131delinsAC	NCBI36
NG_013081.1:g.257459_257460delinsGT
NG_013081.2:g.257459_257460delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1170_1171delinsGT
ENST00000265104.5:c.13837_13838delinsGT MANE Select	ENSP00000265104.4:p.Val4613=
ENST00000681290.1:c.13792_13793delinsGT	ENSP00000505288.1:p.Val4598=
ENST00000265104.4:c.13837_13838delinsGT	ENSP00000265104.4:p.Val4613=
NM_001369.2:c.13837_13838delinsGT	NP_001360.1:p.Val4613=
XM_005248262.2:c.13792_13793delinsGT	XP_005248319.1:p.Val4598=
XM_005248262.3:c.13945_13946delinsGT	XP_005248319.2:p.Val4649=
XM_017009177.1:c.13525_13526delinsGT	XP_016864666.1:p.Val4509=
XM_017009178.1:c.12850_12851delinsGT	XP_016864667.1:p.Val4284=
XM_017009179.2:c.12850_12851delinsGT	XP_016864668.1:p.Val4284=
XM_017009185.1:c.9034_9035delinsGT	XP_016864674.1:p.Val3012=
XM_017009186.1:c.8587_8588delinsGT	XP_016864675.1:p.Val2863=
XM_017009188.1:c.7924_7925delinsGT	XP_016864677.1:p.Val2642=
XM_024454388.1:c.12850_12851delinsGT	XP_024310156.1:p.Val4284=
XM_024454389.1:c.12439_12440delinsGT	XP_024310157.1:p.Val4147=
NM_001369.3:c.13837_13838delinsGT MANE Select	NP_001360.1:p.Val4613=