Canonical Allele Identifier: CA557871722

Gene: DNAH5

Linked Data

• dbSNP Id: rs1765226898
• gnomAD v2: 5-13842026-C-CA
• gnomAD v3: 5-13841917-C-CA
• gnomAD v4: 5-13841917-C-CA
• MyVariant Identifiers: chr5:g.13842027_13842028delinsACA (hg19) ; chr5:g.13841918_13841919delinsACA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13841917_13841918insA , CM000667.2:g.13841917_13841918insA	GRCh38
NC_000005.9:g.13842026_13842027insA , CM000667.1:g.13842026_13842027insA	GRCh37
NC_000005.8:g.13895026_13895027insA	NCBI36
NG_013081.1:g.107563_107564insT
NG_013081.2:g.107563_107564insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.5272-14_5272-13insT MANE Select	ENSP00000265104.4:n.5272-14_5272-13insT
ENST00000681290.1:c.5227-14_5227-13insT	ENSP00000505288.1:n.5227-14_5227-13insT
ENST00000265104.4:c.5272-14_5272-13insT	ENSP00000265104.4:n.5272-14_5272-13insT
NM_001369.2:c.5272-14_5272-13insT	NP_001360.1:n.5272-14_5272-13insT
XM_005248262.2:c.5227-14_5227-13insT	XP_005248319.1:n.5227-14_5227-13insT
XM_011513990.1:c.5272-14_5272-13insT	XP_011512292.1:n.5272-14_5272-13insT
XR_925598.1:n.5479-14_5479-13insT
XM_005248262.3:c.5380-14_5380-13insT	XP_005248319.2:n.5380-14_5380-13insT
XM_017009177.1:c.5380-14_5380-13insT	XP_016864666.1:n.5380-14_5380-13insT
XM_017009178.1:c.4285-14_4285-13insT	XP_016864667.1:n.4285-14_4285-13insT
XM_017009179.2:c.4285-14_4285-13insT	XP_016864668.1:n.4285-14_4285-13insT
XM_017009180.1:c.5380-14_5380-13insT	XP_016864669.1:n.5380-14_5380-13insT
XM_017009181.1:c.5380-14_5380-13insT	XP_016864670.1:n.5380-14_5380-13insT
XM_017009182.1:c.5380-14_5380-13insT	XP_016864671.1:n.5380-14_5380-13insT
XM_017009183.1:c.5380-14_5380-13insT	XP_016864672.1:n.5380-14_5380-13insT
XM_017009184.1:c.5380-14_5380-13insT	XP_016864673.1:n.5380-14_5380-13insT
XM_017009185.1:c.469-14_469-13insT	XP_016864674.1:n.469-14_469-13insT
XM_017009186.1:c.22-14_22-13insT	XP_016864675.1:n.22-14_22-13insT
XM_017009187.1:c.5380-14_5380-13insT	XP_016864676.1:n.5380-14_5380-13insT
XM_024454388.1:c.4285-14_4285-13insT	XP_024310156.1:n.4285-14_4285-13insT
XM_024454389.1:c.3874-14_3874-13insT	XP_024310157.1:n.3874-14_3874-13insT
XR_001742034.1:n.5397-14_5397-13insT
XR_001742035.1:n.5397-14_5397-13insT
NM_001369.3:c.5272-14_5272-13insT MANE Select	NP_001360.1:n.5272-14_5272-13insT