Canonical Allele Identifier: CA1528430396

Gene: DNAH5

Linked Data

• dbSNP Id: rs1752929087

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769127_13769131dup , CM000667.2:g.13769127_13769131dup	GRCh38
NC_000005.9:g.13769236_13769240dup , CM000667.1:g.13769236_13769240dup	GRCh37
NC_000005.8:g.13822236_13822240dup	NCBI36
NG_013081.1:g.180352_180356dup
NG_013081.2:g.180352_180356dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9728_9732dup MANE Select	ENSP00000265104.4:p.Val3245LysfsTer3
ENST00000681290.1:c.9683_9687dup	ENSP00000505288.1:p.Val3230LysfsTer3
ENST00000265104.4:c.9728_9732dup	ENSP00000265104.4:p.Val3245LysfsTer3
ENST00000504001.3:n.440_444dup
NM_001369.2:c.9728_9732dup	NP_001360.1:p.Val3245LysfsTer3
XM_005248262.2:c.9683_9687dup	XP_005248319.1:p.Val3230LysfsTer3
XM_005248262.3:c.9836_9840dup	XP_005248319.2:p.Val3281LysfsTer3
XM_017009177.1:c.9836_9840dup	XP_016864666.1:p.Val3281LysfsTer3
XM_017009178.1:c.8741_8745dup	XP_016864667.1:p.Val2916LysfsTer3
XM_017009179.2:c.8741_8745dup	XP_016864668.1:p.Val2916LysfsTer3
XM_017009180.1:c.9836_9840dup	XP_016864669.1:p.Val3281LysfsTer3
XM_017009181.1:c.9836_9840dup	XP_016864670.1:p.Val3281LysfsTer3
XM_017009182.1:c.9836_9840dup	XP_016864671.1:p.Val3281LysfsTer3
XM_017009185.1:c.4925_4929dup	XP_016864674.1:p.Val1644LysfsTer3
XM_017009186.1:c.4478_4482dup	XP_016864675.1:p.Val1495LysfsTer3
XM_017009188.1:c.3815_3819dup	XP_016864677.1:p.Val1274LysfsTer3
XM_024454388.1:c.8741_8745dup	XP_024310156.1:p.Val2916LysfsTer3
XM_024454389.1:c.8330_8334dup	XP_024310157.1:p.Val2779LysfsTer3
NM_001369.3:c.9728_9732dup MANE Select	NP_001360.1:p.Val3245LysfsTer3