Canonical Allele Identifier: CA2765349688
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13841933_13841934insGCAATTGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAA , CM000667.2:g.13841933_13841934insGCAATTGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAA GRCh38
NC_000005.9:g.13842042_13842043insGCAATTGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAA , CM000667.1:g.13842042_13842043insGCAATTGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAA GRCh37
NC_000005.8:g.13895042_13895043insGCAATTGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAA NCBI36
NG_013081.1:g.107563_107564insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCCAATTGCTTTTTTTTTTTTTTTG
NG_013081.2:g.107563_107564insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCCAATTGCTTTTTTTTTTTTTTTG

Transcript Alleles

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