Canonical Allele Identifier: CA1528423490

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753385_13753386delinsTA , CM000667.2:g.13753385_13753386delinsTA	GRCh38
NC_000005.9:g.13753494_13753495delinsTA , CM000667.1:g.13753494_13753495delinsTA	GRCh37
NC_000005.8:g.13806494_13806495delinsTA	NCBI36
NG_013081.1:g.196095_196096delinsTA
NG_013081.2:g.196095_196096delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10719_10720delinsTA MANE Select	ENSP00000265104.4:p.Ile3573=
ENST00000681290.1:c.10674_10675delinsTA	ENSP00000505288.1:p.Ile3558=
ENST00000265104.4:c.10719_10720delinsTA	ENSP00000265104.4:p.Ile3573=
NM_001369.2:c.10719_10720delinsTA	NP_001360.1:p.Ile3573=
XM_005248262.2:c.10674_10675delinsTA	XP_005248319.1:p.Ile3558=
XM_005248262.3:c.10827_10828delinsTA	XP_005248319.2:p.Ile3609=
XM_017009177.1:c.10827_10828delinsTA	XP_016864666.1:p.Ile3609=
XM_017009178.1:c.9732_9733delinsTA	XP_016864667.1:p.Ile3244=
XM_017009179.2:c.9732_9733delinsTA	XP_016864668.1:p.Ile3244=
XM_017009180.1:c.10827_10828delinsTA	XP_016864669.1:p.Ile3609=
XM_017009181.1:c.10827_10828delinsTA	XP_016864670.1:p.Ile3609=
XM_017009182.1:c.10827_10828delinsTA	XP_016864671.1:p.Ile3609=
XM_017009185.1:c.5916_5917delinsTA	XP_016864674.1:p.Ile1972=
XM_017009186.1:c.5469_5470delinsTA	XP_016864675.1:p.Ile1823=
XM_017009188.1:c.4806_4807delinsTA	XP_016864677.1:p.Ile1602=
XM_024454388.1:c.9732_9733delinsTA	XP_024310156.1:p.Ile3244=
XM_024454389.1:c.9321_9322delinsTA	XP_024310157.1:p.Ile3107=
NM_001369.3:c.10719_10720delinsTA MANE Select	NP_001360.1:p.Ile3573=