Canonical Allele Identifier: CA3203490

Gene: DNAH5

Linked Data

• dbSNP Id: rs768341461
• ExAC: 5:13830656 A / AT
• gnomAD v2: 5-13830656-A-AT
• MyVariant Identifiers: chr5:g.13830656_13830657insT (hg19) ; chr5:g.13830547_13830548insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13830549dup , CM000667.2:g.13830549dup	GRCh38
NC_000005.9:g.13830658dup , CM000667.1:g.13830658dup	GRCh37
NC_000005.8:g.13883658dup	NCBI36
NG_013081.1:g.118933dup
NG_013081.2:g.118933dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000683090.1:n.992+49dup
ENST00000265104.5:c.6061+49dup MANE Select	ENSP00000265104.4:n.6061+49dup
ENST00000681290.1:c.6016+49dup	ENSP00000505288.1:n.6016+49dup
ENST00000265104.4:c.6061+49dup	ENSP00000265104.4:n.6061+49dup
NM_001369.2:c.6061+49dup	NP_001360.1:n.6061+49dup
XM_005248262.2:c.6016+49dup	XP_005248319.1:n.6016+49dup
XM_011513990.1:c.6061+49dup	XP_011512292.1:n.6061+49dup
XR_925598.1:n.6268+49dup
XM_005248262.3:c.6169+49dup	XP_005248319.2:n.6169+49dup
XM_017009177.1:c.6169+49dup	XP_016864666.1:n.6169+49dup
XM_017009178.1:c.5074+49dup	XP_016864667.1:n.5074+49dup
XM_017009179.2:c.5074+49dup	XP_016864668.1:n.5074+49dup
XM_017009180.1:c.6169+49dup	XP_016864669.1:n.6169+49dup
XM_017009181.1:c.6169+49dup	XP_016864670.1:n.6169+49dup
XM_017009182.1:c.6169+49dup	XP_016864671.1:n.6169+49dup
XM_017009183.1:c.6169+49dup	XP_016864672.1:n.6169+49dup
XM_017009184.1:c.6169+49dup	XP_016864673.1:n.6169+49dup
XM_017009185.1:c.1258+49dup	XP_016864674.1:n.1258+49dup
XM_017009186.1:c.811+49dup	XP_016864675.1:n.811+49dup
XM_017009187.1:c.6169+49dup	XP_016864676.1:n.6169+49dup
XM_017009188.1:c.148+49dup	XP_016864677.1:n.148+49dup
XM_024454388.1:c.5074+49dup	XP_024310156.1:n.5074+49dup
XM_024454389.1:c.4663+49dup	XP_024310157.1:n.4663+49dup
XR_001742034.1:n.6186+49dup
XR_001742035.1:n.6186+49dup
NM_001369.3:c.6061+49dup MANE Select	NP_001360.1:n.6061+49dup