Canonical Allele Identifier: CA1073407957

Gene: DNAH5

Linked Data

• dbSNP Id: rs36092508
• gnomAD v3: 5-13769247-G-GTTTTT
• gnomAD v4: 5-13769247-G-GTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769261_13769265dup , CM000667.2:g.13769261_13769265dup	GRCh38
NC_000005.9:g.13769370_13769374dup , CM000667.1:g.13769370_13769374dup	GRCh37
NC_000005.8:g.13822370_13822374dup	NCBI36
NG_013081.1:g.180229_180233dup
NG_013081.2:g.180229_180233dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9721-116_9721-112dup MANE Select	ENSP00000265104.4:n.9721-116_9721-112dup
ENST00000681290.1:c.9676-116_9676-112dup	ENSP00000505288.1:n.9676-116_9676-112dup
ENST00000265104.4:c.9721-116_9721-112dup	ENSP00000265104.4:n.9721-116_9721-112dup
ENST00000504001.3:n.433-116_433-112dup
NM_001369.2:c.9721-116_9721-112dup	NP_001360.1:n.9721-116_9721-112dup
XM_005248262.2:c.9676-116_9676-112dup	XP_005248319.1:n.9676-116_9676-112dup
XM_005248262.3:c.9829-116_9829-112dup	XP_005248319.2:n.9829-116_9829-112dup
XM_017009177.1:c.9829-116_9829-112dup	XP_016864666.1:n.9829-116_9829-112dup
XM_017009178.1:c.8734-116_8734-112dup	XP_016864667.1:n.8734-116_8734-112dup
XM_017009179.2:c.8734-116_8734-112dup	XP_016864668.1:n.8734-116_8734-112dup
XM_017009180.1:c.9829-116_9829-112dup	XP_016864669.1:n.9829-116_9829-112dup
XM_017009181.1:c.9829-116_9829-112dup	XP_016864670.1:n.9829-116_9829-112dup
XM_017009182.1:c.9829-116_9829-112dup	XP_016864671.1:n.9829-116_9829-112dup
XM_017009185.1:c.4918-116_4918-112dup	XP_016864674.1:n.4918-116_4918-112dup
XM_017009186.1:c.4471-116_4471-112dup	XP_016864675.1:n.4471-116_4471-112dup
XM_017009188.1:c.3808-116_3808-112dup	XP_016864677.1:n.3808-116_3808-112dup
XM_024454388.1:c.8734-116_8734-112dup	XP_024310156.1:n.8734-116_8734-112dup
XM_024454389.1:c.8323-116_8323-112dup	XP_024310157.1:n.8323-116_8323-112dup
NM_001369.3:c.9721-116_9721-112dup MANE Select	NP_001360.1:n.9721-116_9721-112dup