Canonical Allele Identifier: CA2580072002

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2113597
• ClinVar RCV Id: RCV003029625

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13718979_13718980delinsGA , CM000667.2:g.13718979_13718980delinsGA	GRCh38
NC_000005.9:g.13719088_13719089delinsGA , CM000667.1:g.13719088_13719089delinsGA	GRCh37
NC_000005.8:g.13772088_13772089delinsGA	NCBI36
NG_013081.1:g.230501_230502delinsTC
NG_013081.2:g.230501_230502delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.12401_12402delinsTC MANE Select	ENSP00000265104.4:p.Ala4134Val
ENST00000681290.1:c.12356_12357delinsTC	ENSP00000505288.1:p.Ala4119Val
ENST00000265104.4:c.12401_12402delinsTC	ENSP00000265104.4:p.Ala4134Val
NM_001369.2:c.12401_12402delinsTC	NP_001360.1:p.Ala4134Val
XM_005248262.2:c.12356_12357delinsTC	XP_005248319.1:p.Ala4119Val
XM_005248262.3:c.12509_12510delinsTC	XP_005248319.2:p.Ala4170Val
XM_017009177.1:c.12509_12510delinsTC	XP_016864666.1:p.Ala4170Val
XM_017009178.1:c.11414_11415delinsTC	XP_016864667.1:p.Ala3805Val
XM_017009179.2:c.11414_11415delinsTC	XP_016864668.1:p.Ala3805Val
XM_017009180.1:c.12509_12510delinsTC	XP_016864669.1:p.Ala4170Val
XM_017009185.1:c.7598_7599delinsTC	XP_016864674.1:p.Ala2533Val
XM_017009186.1:c.7151_7152delinsTC	XP_016864675.1:p.Ala2384Val
XM_017009188.1:c.6488_6489delinsTC	XP_016864677.1:p.Ala2163Val
XM_024454388.1:c.11414_11415delinsTC	XP_024310156.1:p.Ala3805Val
XM_024454389.1:c.11003_11004delinsTC	XP_024310157.1:p.Ala3668Val
NM_001369.3:c.12401_12402delinsTC MANE Select	NP_001360.1:p.Ala4134Val