Canonical Allele Identifier: CA10619116

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 351092
• ClinVar RCV Id: RCV000343543
• dbSNP Id: rs886059979
• gnomAD v3: 5-13841911-T-TA
• gnomAD v4: 5-13841911-T-TA
• MyVariant Identifiers: chr5:g.13842021dupA (hg19) ; chr5:g.13842020_13842021insA (hg19) ; chr5:g.13841912dupA (hg38) ; chr5:g.13841911_13841912insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13841912dup , CM000667.2:g.13841912dup	GRCh38
NC_000005.9:g.13842021dup , CM000667.1:g.13842021dup	GRCh37
NC_000005.8:g.13895021dup	NCBI36
NG_013081.1:g.107569dup
NG_013081.2:g.107569dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.5272-8dup MANE Select	ENSP00000265104.4:n.5272-8dup
ENST00000681290.1:c.5227-8dup	ENSP00000505288.1:n.5227-8dup
ENST00000265104.4:c.5272-8dup	ENSP00000265104.4:n.5272-8dup
NM_001369.2:c.5272-8dup	NP_001360.1:n.5272-8dup
XM_005248262.2:c.5227-8dup	XP_005248319.1:n.5227-8dup
XM_011513990.1:c.5272-8dup	XP_011512292.1:n.5272-8dup
XR_925598.1:n.5479-8dup
XM_005248262.3:c.5380-8dup	XP_005248319.2:n.5380-8dup
XM_017009177.1:c.5380-8dup	XP_016864666.1:n.5380-8dup
XM_017009178.1:c.4285-8dup	XP_016864667.1:n.4285-8dup
XM_017009179.2:c.4285-8dup	XP_016864668.1:n.4285-8dup
XM_017009180.1:c.5380-8dup	XP_016864669.1:n.5380-8dup
XM_017009181.1:c.5380-8dup	XP_016864670.1:n.5380-8dup
XM_017009182.1:c.5380-8dup	XP_016864671.1:n.5380-8dup
XM_017009183.1:c.5380-8dup	XP_016864672.1:n.5380-8dup
XM_017009184.1:c.5380-8dup	XP_016864673.1:n.5380-8dup
XM_017009185.1:c.469-8dup	XP_016864674.1:n.469-8dup
XM_017009186.1:c.22-8dup	XP_016864675.1:n.22-8dup
XM_017009187.1:c.5380-8dup	XP_016864676.1:n.5380-8dup
XM_024454388.1:c.4285-8dup	XP_024310156.1:n.4285-8dup
XM_024454389.1:c.3874-8dup	XP_024310157.1:n.3874-8dup
XR_001742034.1:n.5397-8dup
XR_001742035.1:n.5397-8dup
NM_001369.3:c.5272-8dup MANE Select	NP_001360.1:n.5272-8dup