Canonical Allele Identifier: CA2580071990

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1994995
• ClinVar RCV Id: RCV002791550

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13735212_13735216dup , CM000667.2:g.13735212_13735216dup	GRCh38
NC_000005.9:g.13735321_13735325dup , CM000667.1:g.13735321_13735325dup	GRCh37
NC_000005.8:g.13788321_13788325dup	NCBI36
NG_013081.1:g.214265_214269dup
NG_013081.2:g.214265_214269dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.11676_11680dup MANE Select	ENSP00000265104.4:p.Leu3894HisfsTer10
ENST00000681290.1:c.11631_11635dup	ENSP00000505288.1:p.Leu3879HisfsTer10
ENST00000265104.4:c.11676_11680dup	ENSP00000265104.4:p.Leu3894HisfsTer10
NM_001369.2:c.11676_11680dup	NP_001360.1:p.Leu3894HisfsTer10
XM_005248262.2:c.11631_11635dup	XP_005248319.1:p.Leu3879HisfsTer10
XM_005248262.3:c.11784_11788dup	XP_005248319.2:p.Leu3930HisfsTer10
XM_017009177.1:c.11784_11788dup	XP_016864666.1:p.Leu3930HisfsTer10
XM_017009178.1:c.10689_10693dup	XP_016864667.1:p.Leu3565HisfsTer10
XM_017009179.2:c.10689_10693dup	XP_016864668.1:p.Leu3565HisfsTer10
XM_017009180.1:c.11784_11788dup	XP_016864669.1:p.Leu3930HisfsTer10
XM_017009181.1:c.11784_11788dup	XP_016864670.1:p.Leu3930HisfsTer10
XM_017009185.1:c.6873_6877dup	XP_016864674.1:p.Leu2293HisfsTer10
XM_017009186.1:c.6426_6430dup	XP_016864675.1:p.Leu2144HisfsTer10
XM_017009188.1:c.5763_5767dup	XP_016864677.1:p.Leu1923HisfsTer10
XM_024454388.1:c.10689_10693dup	XP_024310156.1:p.Leu3565HisfsTer10
XM_024454389.1:c.10278_10282dup	XP_024310157.1:p.Leu3428HisfsTer10
NM_001369.3:c.11676_11680dup MANE Select	NP_001360.1:p.Leu3894HisfsTer10