Canonical Allele Identifier: CA2673274482
Gene: DNAH5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13841937_13841938insAAAAATAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000667.2:g.13841937_13841938insAAAAATAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA GRCh38
NC_000005.9:g.13842046_13842047insAAAAATAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000667.1:g.13842046_13842047insAAAAATAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA GRCh37
NC_000005.8:g.13895046_13895047insAAAAATAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NCBI36
NG_013081.1:g.107562_107563insTTTTTTTTTTATTTATTTTTTTTTTTTTTTTTTTTTTTT
NG_013081.2:g.107562_107563insTTTTTTTTTTATTTATTTTTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.5272-15_5272-14insTTTTTTTTTTATTTATTTTTTTTTTTTTTTTTTTTTTTT MANE Select ENSP00000265104.4:n.5272-15_5272-14insTTTTTTTTTTATTTATTTTTTTT...
ENST00000681290.1:c.5227-15_5227-14insTTTTTTTTTTATTTATTTTTTTTTTTTTTTTTTTTTTTT ENSP00000505288.1:n.5227-15_5227-14insTTTTTTTTTTATTTATTTTTTTT...
ENST00000265104.4:c.5272-15_5272-14insTTTTTTTTTTATTTATTTTTTTTTTTTTTTTTTTTTTTT ENSP00000265104.4:n.5272-15_5272-14insTTTTTTTTTTATTTATTTTTTTT...
NM_001369.2:c.5272-15_5272-14insTTTTTTTTTTATTTATTTTTTTTTTTTTTTTTTTTTTTT NP_001360.1:n.5272-15_5272-14insTTTTTTTTTTATTTATTTTTTTTTTTTTT...
XM_005248262.2:c.5227-15_5227-14insTTTTTTTTTTATTTATTTTTTTTTTTTTTTTTTTTTTTT XP_005248319.1:n.5227-15_5227-14insTTTTTTTTTTATTTATTTTTTTTTTT...
XM_011513990.1:c.5272-15_5272-14insTTTTTTTTTTATTTATTTTTTTTTTTTTTTTTTTTTTTT XP_011512292.1:n.5272-15_5272-14insTTTTTTTTTTATTTATTTTTTTTTTT...
XR_925598.1:n.5479-15_5479-14insTTTTTTTTTTATTTATTTTTTTTTTTTTTTTTTTTTTTT
XM_005248262.3:c.5380-15_5380-14insTTTTTTTTTTATTTATTTTTTTTTTTTTTTTTTTTTTTT XP_005248319.2:n.5380-15_5380-14insTTTTTTTTTTATTTATTTTTTTTTTT...
XM_017009177.1:c.5380-15_5380-14insTTTTTTTTTTATTTATTTTTTTTTTTTTTTTTTTTTTTT XP_016864666.1:n.5380-15_5380-14insTTTTTTTTTTATTTATTTTTTTTTTT...
XM_017009178.1:c.4285-15_4285-14insTTTTTTTTTTATTTATTTTTTTTTTTTTTTTTTTTTTTT XP_016864667.1:n.4285-15_4285-14insTTTTTTTTTTATTTATTTTTTTTTTT...
XM_017009179.2:c.4285-15_4285-14insTTTTTTTTTTATTTATTTTTTTTTTTTTTTTTTTTTTTT XP_016864668.1:n.4285-15_4285-14insTTTTTTTTTTATTTATTTTTTTTTTT...
XM_017009180.1:c.5380-15_5380-14insTTTTTTTTTTATTTATTTTTTTTTTTTTTTTTTTTTTTT XP_016864669.1:n.5380-15_5380-14insTTTTTTTTTTATTTATTTTTTTTTTT...
XM_017009181.1:c.5380-15_5380-14insTTTTTTTTTTATTTATTTTTTTTTTTTTTTTTTTTTTTT XP_016864670.1:n.5380-15_5380-14insTTTTTTTTTTATTTATTTTTTTTTTT...
XM_017009182.1:c.5380-15_5380-14insTTTTTTTTTTATTTATTTTTTTTTTTTTTTTTTTTTTTT XP_016864671.1:n.5380-15_5380-14insTTTTTTTTTTATTTATTTTTTTTTTT...
XM_017009183.1:c.5380-15_5380-14insTTTTTTTTTTATTTATTTTTTTTTTTTTTTTTTTTTTTT XP_016864672.1:n.5380-15_5380-14insTTTTTTTTTTATTTATTTTTTTTTTT...
XM_017009184.1:c.5380-15_5380-14insTTTTTTTTTTATTTATTTTTTTTTTTTTTTTTTTTTTTT XP_016864673.1:n.5380-15_5380-14insTTTTTTTTTTATTTATTTTTTTTTTT...
XM_017009185.1:c.469-15_469-14insTTTTTTTTTTATTTATTTTTTTTTTTTTTTTTTTTTTTT XP_016864674.1:n.469-15_469-14insTTTTTTTTTTATTTATTTTTTTTTTTTT...
XM_017009186.1:c.22-15_22-14insTTTTTTTTTTATTTATTTTTTTTTTTTTTTTTTTTTTTT XP_016864675.1:n.22-15_22-14insTTTTTTTTTTATTTATTTTTTTTTTTTTTT...
XM_017009187.1:c.5380-15_5380-14insTTTTTTTTTTATTTATTTTTTTTTTTTTTTTTTTTTTTT XP_016864676.1:n.5380-15_5380-14insTTTTTTTTTTATTTATTTTTTTTTTT...
XM_024454388.1:c.4285-15_4285-14insTTTTTTTTTTATTTATTTTTTTTTTTTTTTTTTTTTTTT XP_024310156.1:n.4285-15_4285-14insTTTTTTTTTTATTTATTTTTTTTTTT...
XM_024454389.1:c.3874-15_3874-14insTTTTTTTTTTATTTATTTTTTTTTTTTTTTTTTTTTTTT XP_024310157.1:n.3874-15_3874-14insTTTTTTTTTTATTTATTTTTTTTTTT...
XR_001742034.1:n.5397-15_5397-14insTTTTTTTTTTATTTATTTTTTTTTTTTTTTTTTTTTTTT
XR_001742035.1:n.5397-15_5397-14insTTTTTTTTTTATTTATTTTTTTTTTTTTTTTTTTTTTTT
NM_001369.3:c.5272-15_5272-14insTTTTTTTTTTATTTATTTTTTTTTTTTTTTTTTTTTTTT MANE Select NP_001360.1:n.5272-15_5272-14insTTTTTTTTTTATTTATTTTTTTTTTTTTT...