Canonical Allele Identifier: CA913108292

Gene: DNAH5

Linked Data

• MyVariant Identifiers: chr5:g.13876910del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13876801del , CM000667.2:g.13876801del	GRCh38
NC_000005.9:g.13876910del , CM000667.1:g.13876910del	GRCh37
NC_000005.8:g.13929910del	NCBI36
NG_013081.1:g.72680del
NG_013081.2:g.72680del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.3279del MANE Select	ENSP00000265104.4:p.Ser1094LeufsTer2
ENST00000681290.1:c.3234del	ENSP00000505288.1:p.Ser1079LeufsTer2
ENST00000265104.4:c.3279del	ENSP00000265104.4:p.Ser1094LeufsTer2
NM_001369.2:c.3279del	NP_001360.1:p.Ser1094LeufsTer2
XM_005248262.2:c.3234del	XP_005248319.1:p.Ser1079LeufsTer2
XM_011513990.1:c.3279del	XP_011512292.1:p.Ser1094LeufsTer2
XR_925598.1:n.3486del
XM_005248262.3:c.3387del	XP_005248319.2:p.Ser1130LeufsTer2
XM_017009177.1:c.3387del	XP_016864666.1:p.Ser1130LeufsTer2
XM_017009178.1:c.2292del	XP_016864667.1:p.Ser765LeufsTer2
XM_017009179.2:c.2292del	XP_016864668.1:p.Ser765LeufsTer2
XM_017009180.1:c.3387del	XP_016864669.1:p.Ser1130LeufsTer2
XM_017009181.1:c.3387del	XP_016864670.1:p.Ser1130LeufsTer2
XM_017009182.1:c.3387del	XP_016864671.1:p.Ser1130LeufsTer2
XM_017009183.1:c.3387del	XP_016864672.1:p.Ser1130LeufsTer2
XM_017009184.1:c.3387del	XP_016864673.1:p.Ser1130LeufsTer2
XM_017009187.1:c.3387del	XP_016864676.1:p.Ser1130LeufsTer2
XM_024454388.1:c.2292del	XP_024310156.1:p.Ser765LeufsTer2
XM_024454389.1:c.1881del	XP_024310157.1:p.Ser628LeufsTer2
XR_001742034.1:n.3404del
XR_001742035.1:n.3404del
NM_001369.3:c.3279del MANE Select	NP_001360.1:p.Ser1094LeufsTer2