Canonical Allele Identifier: CA557876828

Gene: DNAH5

Linked Data

• dbSNP Id: rs1467710784
• gnomAD v2: 5-13830758-A-AACCACGAC
• gnomAD v4: 5-13830649-A-AACCACGAC
• MyVariant Identifiers: chr5:g.13830758_13830759insACCACGAC (hg19) ; chr5:g.13830649_13830650insACCACGAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13830650_13830657dup , CM000667.2:g.13830650_13830657dup	GRCh38
NC_000005.9:g.13830759_13830766dup , CM000667.1:g.13830759_13830766dup	GRCh37
NC_000005.8:g.13883759_13883766dup	NCBI36
NG_013081.1:g.118824_118831dup
NG_013081.2:g.118824_118831dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000683090.1:n.932_939dup
ENST00000265104.5:c.6001_6008dup MANE Select	ENSP00000265104.4:p.Phe2004SerfsTer?
ENST00000681290.1:c.5956_5963dup	ENSP00000505288.1:p.Phe1989SerfsTer?
ENST00000265104.4:c.6001_6008dup	ENSP00000265104.4:p.Phe2004SerfsTer?
NM_001369.2:c.6001_6008dup	NP_001360.1:p.Phe2004SerfsTer?
XM_005248262.2:c.5956_5963dup	XP_005248319.1:p.Phe1989SerfsTer?
XM_011513990.1:c.6001_6008dup	XP_011512292.1:p.Phe2004SerfsTer?
XR_925598.1:n.6208_6215dup
XM_005248262.3:c.6109_6116dup	XP_005248319.2:p.Phe2040SerfsTer?
XM_017009177.1:c.6109_6116dup	XP_016864666.1:p.Phe2040SerfsTer?
XM_017009178.1:c.5014_5021dup	XP_016864667.1:p.Phe1675SerfsTer?
XM_017009179.2:c.5014_5021dup	XP_016864668.1:p.Phe1675SerfsTer?
XM_017009180.1:c.6109_6116dup	XP_016864669.1:p.Phe2040SerfsTer?
XM_017009181.1:c.6109_6116dup	XP_016864670.1:p.Phe2040SerfsTer?
XM_017009182.1:c.6109_6116dup	XP_016864671.1:p.Phe2040SerfsTer?
XM_017009183.1:c.6109_6116dup	XP_016864672.1:p.Phe2040SerfsTer?
XM_017009184.1:c.6109_6116dup	XP_016864673.1:p.Phe2040SerfsTer?
XM_017009185.1:c.1198_1205dup	XP_016864674.1:p.Phe403SerfsTer?
XM_017009186.1:c.751_758dup	XP_016864675.1:p.Phe254SerfsTer?
XM_017009187.1:c.6109_6116dup	XP_016864676.1:p.Phe2040SerfsTer?
XM_017009188.1:c.88_95dup	XP_016864677.1:p.Phe33SerfsTer?
XM_024454388.1:c.5014_5021dup	XP_024310156.1:p.Phe1675SerfsTer?
XM_024454389.1:c.4603_4610dup	XP_024310157.1:p.Phe1538SerfsTer?
XR_001742034.1:n.6126_6133dup
XR_001742035.1:n.6126_6133dup
NM_001369.3:c.6001_6008dup MANE Select	NP_001360.1:p.Phe2004SerfsTer?