Canonical Allele Identifier: CA2499306900
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13780869_13780870delinsC , CM000667.2:g.13780869_13780870delinsC GRCh38
NC_000005.9:g.13780978_13780979delinsC , CM000667.1:g.13780978_13780979delinsC GRCh37
NC_000005.8:g.13833978_13833979delinsC NCBI36
NG_013081.1:g.168611_168612delinsG
NG_013081.2:g.168611_168612delinsG

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.8910_8911delinsG MANE Select ENSP00000265104.4:p.Phe2971SerfsTer12
ENST00000681290.1:c.8865_8866delinsG ENSP00000505288.1:p.Phe2956SerfsTer12
ENST00000265104.4:c.8910_8911delinsG ENSP00000265104.4:p.Phe2971SerfsTer12
NM_001369.2:c.8910_8911delinsG NP_001360.1:p.Phe2971SerfsTer12
XM_005248262.2:c.8865_8866delinsG XP_005248319.1:p.Phe2956SerfsTer12
XM_011513990.1:c.8910_8911delinsG XP_011512292.1:p.Phe2971SerfsTer12
XR_925598.1:n.9028-3515_9028-3514delinsG
XM_005248262.3:c.9018_9019delinsG XP_005248319.2:p.Phe3007SerfsTer12
XM_017009177.1:c.9018_9019delinsG XP_016864666.1:p.Phe3007SerfsTer12
XM_017009178.1:c.7923_7924delinsG XP_016864667.1:p.Phe2642SerfsTer12
XM_017009179.2:c.7923_7924delinsG XP_016864668.1:p.Phe2642SerfsTer12
XM_017009180.1:c.9018_9019delinsG XP_016864669.1:p.Phe3007SerfsTer12
XM_017009181.1:c.9018_9019delinsG XP_016864670.1:p.Phe3007SerfsTer12
XM_017009182.1:c.9018_9019delinsG XP_016864671.1:p.Phe3007SerfsTer12
XM_017009183.1:c.9018_9019delinsG XP_016864672.1:p.Phe3007SerfsTer12
XM_017009184.1:c.9018_9019delinsG XP_016864673.1:p.Phe3007SerfsTer12
XM_017009185.1:c.4107_4108delinsG XP_016864674.1:p.Phe1370SerfsTer12
XM_017009186.1:c.3660_3661delinsG XP_016864675.1:p.Phe1221SerfsTer12
XM_017009188.1:c.2997_2998delinsG XP_016864677.1:p.Phe1000SerfsTer12
XM_024454388.1:c.7923_7924delinsG XP_024310156.1:p.Phe2642SerfsTer12
XM_024454389.1:c.7512_7513delinsG XP_024310157.1:p.Phe2505SerfsTer12
XR_001742034.1:n.8946-3515_8946-3514delinsG
XR_001742035.1:n.8946-3515_8946-3514delinsG
NM_001369.3:c.8910_8911delinsG MANE Select NP_001360.1:p.Phe2971SerfsTer12