Canonical Allele Identifier: CA1528422960
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13752251_13752252delinsCA , CM000667.2:g.13752251_13752252delinsCA GRCh38
NC_000005.9:g.13752360_13752361delinsCA , CM000667.1:g.13752360_13752361delinsCA GRCh37
NC_000005.8:g.13805360_13805361delinsCA NCBI36
NG_013081.1:g.197229_197230delinsTG
NG_013081.2:g.197229_197230delinsTG

Transcript Alleles

HGVS Amino-acid change
ENST00000265104.5:c.10910_10911delinsTG MANE Select ENSP00000265104.4:p.Leu3637=
ENST00000681290.1:c.10865_10866delinsTG ENSP00000505288.1:p.Leu3622=
ENST00000265104.4:c.10910_10911delinsTG ENSP00000265104.4:p.Leu3637=
NM_001369.2:c.10910_10911delinsTG NP_001360.1:p.Leu3637=
XM_005248262.2:c.10865_10866delinsTG XP_005248319.1:p.Leu3622=
XM_005248262.3:c.11018_11019delinsTG XP_005248319.2:p.Leu3673=
XM_017009177.1:c.11018_11019delinsTG XP_016864666.1:p.Leu3673=
XM_017009178.1:c.9923_9924delinsTG XP_016864667.1:p.Leu3308=
XM_017009179.2:c.9923_9924delinsTG XP_016864668.1:p.Leu3308=
XM_017009180.1:c.11018_11019delinsTG XP_016864669.1:p.Leu3673=
XM_017009181.1:c.11018_11019delinsTG XP_016864670.1:p.Leu3673=
XM_017009182.1:c.11018_11019delinsTG XP_016864671.1:p.Leu3673=
XM_017009185.1:c.6107_6108delinsTG XP_016864674.1:p.Leu2036=
XM_017009186.1:c.5660_5661delinsTG XP_016864675.1:p.Leu1887=
XM_017009188.1:c.4997_4998delinsTG XP_016864677.1:p.Leu1666=
XM_024454388.1:c.9923_9924delinsTG XP_024310156.1:p.Leu3308=
XM_024454389.1:c.9512_9513delinsTG XP_024310157.1:p.Leu3171=
NM_001369.3:c.10910_10911delinsTG MANE Select NP_001360.1:p.Leu3637=