Canonical Allele Identifier: CA2765349748
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13841924_13841925insCC , CM000667.2:g.13841924_13841925insCC GRCh38
NC_000005.9:g.13842033_13842034insCC , CM000667.1:g.13842033_13842034insCC GRCh37
NC_000005.8:g.13895033_13895034insCC NCBI36
NG_013081.1:g.107556_107557insGG
NG_013081.2:g.107556_107557insGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.5272-21_5272-20insGG MANE Select ENSP00000265104.4:n.5272-21_5272-20insGG
ENST00000681290.1:c.5227-21_5227-20insGG ENSP00000505288.1:n.5227-21_5227-20insGG
ENST00000265104.4:c.5272-21_5272-20insGG ENSP00000265104.4:n.5272-21_5272-20insGG
NM_001369.2:c.5272-21_5272-20insGG NP_001360.1:n.5272-21_5272-20insGG
XM_005248262.2:c.5227-21_5227-20insGG XP_005248319.1:n.5227-21_5227-20insGG
XM_011513990.1:c.5272-21_5272-20insGG XP_011512292.1:n.5272-21_5272-20insGG
XR_925598.1:n.5479-21_5479-20insGG
XM_005248262.3:c.5380-21_5380-20insGG XP_005248319.2:n.5380-21_5380-20insGG
XM_017009177.1:c.5380-21_5380-20insGG XP_016864666.1:n.5380-21_5380-20insGG
XM_017009178.1:c.4285-21_4285-20insGG XP_016864667.1:n.4285-21_4285-20insGG
XM_017009179.2:c.4285-21_4285-20insGG XP_016864668.1:n.4285-21_4285-20insGG
XM_017009180.1:c.5380-21_5380-20insGG XP_016864669.1:n.5380-21_5380-20insGG
XM_017009181.1:c.5380-21_5380-20insGG XP_016864670.1:n.5380-21_5380-20insGG
XM_017009182.1:c.5380-21_5380-20insGG XP_016864671.1:n.5380-21_5380-20insGG
XM_017009183.1:c.5380-21_5380-20insGG XP_016864672.1:n.5380-21_5380-20insGG
XM_017009184.1:c.5380-21_5380-20insGG XP_016864673.1:n.5380-21_5380-20insGG
XM_017009185.1:c.469-21_469-20insGG XP_016864674.1:n.469-21_469-20insGG
XM_017009186.1:c.22-21_22-20insGG XP_016864675.1:n.22-21_22-20insGG
XM_017009187.1:c.5380-21_5380-20insGG XP_016864676.1:n.5380-21_5380-20insGG
XM_024454388.1:c.4285-21_4285-20insGG XP_024310156.1:n.4285-21_4285-20insGG
XM_024454389.1:c.3874-21_3874-20insGG XP_024310157.1:n.3874-21_3874-20insGG
XR_001742034.1:n.5397-21_5397-20insGG
XR_001742035.1:n.5397-21_5397-20insGG
NM_001369.3:c.5272-21_5272-20insGG MANE Select NP_001360.1:n.5272-21_5272-20insGG