Canonical Allele Identifier: CA2673269723

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13769146-T-TATAAAGCAAGCAATACTTCACCAAACAGTATTAAACATCCAGCTGAAAATGCAC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769149_13769202dup , CM000667.2:g.13769149_13769202dup	GRCh38
NC_000005.9:g.13769258_13769311dup , CM000667.1:g.13769258_13769311dup	GRCh37
NC_000005.8:g.13822258_13822311dup	NCBI36
NG_013081.1:g.180281_180334dup
NG_013081.2:g.180281_180334dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.9721-64_9721-11dup MANE Select	ENSP00000265104.4:n.9721-64_9721-11dup
ENST00000681290.1:c.9676-64_9676-11dup	ENSP00000505288.1:n.9676-64_9676-11dup
ENST00000265104.4:c.9721-64_9721-11dup	ENSP00000265104.4:n.9721-64_9721-11dup
ENST00000504001.3:n.433-64_433-11dup
NM_001369.2:c.9721-64_9721-11dup	NP_001360.1:n.9721-64_9721-11dup
XM_005248262.2:c.9676-64_9676-11dup	XP_005248319.1:n.9676-64_9676-11dup
XM_005248262.3:c.9829-64_9829-11dup	XP_005248319.2:n.9829-64_9829-11dup
XM_017009177.1:c.9829-64_9829-11dup	XP_016864666.1:n.9829-64_9829-11dup
XM_017009178.1:c.8734-64_8734-11dup	XP_016864667.1:n.8734-64_8734-11dup
XM_017009179.2:c.8734-64_8734-11dup	XP_016864668.1:n.8734-64_8734-11dup
XM_017009180.1:c.9829-64_9829-11dup	XP_016864669.1:n.9829-64_9829-11dup
XM_017009181.1:c.9829-64_9829-11dup	XP_016864670.1:n.9829-64_9829-11dup
XM_017009182.1:c.9829-64_9829-11dup	XP_016864671.1:n.9829-64_9829-11dup
XM_017009185.1:c.4918-64_4918-11dup	XP_016864674.1:n.4918-64_4918-11dup
XM_017009186.1:c.4471-64_4471-11dup	XP_016864675.1:n.4471-64_4471-11dup
XM_017009188.1:c.3808-64_3808-11dup	XP_016864677.1:n.3808-64_3808-11dup
XM_024454388.1:c.8734-64_8734-11dup	XP_024310156.1:n.8734-64_8734-11dup
XM_024454389.1:c.8323-64_8323-11dup	XP_024310157.1:n.8323-64_8323-11dup
NM_001369.3:c.9721-64_9721-11dup MANE Select	NP_001360.1:n.9721-64_9721-11dup