Canonical Allele Identifier: CA1528403782
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13708263_13708267delinsTTCTG , CM000667.2:g.13708263_13708267delinsTTCTG GRCh38
NC_000005.9:g.13708372_13708376delinsTTCTG , CM000667.1:g.13708372_13708376delinsTTCTG GRCh37
NC_000005.8:g.13761372_13761376delinsTTCTG NCBI36
NG_013081.1:g.241214_241218delinsCAGAA
NG_013081.2:g.241214_241218delinsCAGAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000683611.1:n.527_531delinsCAGAA
ENST00000265104.5:c.13194_13198delinsCAGAA MANE Select ENSP00000265104.4:p.Asp4398=
ENST00000681290.1:c.13149_13153delinsCAGAA ENSP00000505288.1:p.Asp4383=
ENST00000265104.4:c.13194_13198delinsCAGAA ENSP00000265104.4:p.Asp4398=
NM_001369.2:c.13194_13198delinsCAGAA NP_001360.1:p.Asp4398=
XM_005248262.2:c.13149_13153delinsCAGAA XP_005248319.1:p.Asp4383=
XM_005248262.3:c.13302_13306delinsCAGAA XP_005248319.2:p.Asp4434=
XM_017009177.1:c.12882_12886delinsCAGAA XP_016864666.1:p.Asp4294=
XM_017009178.1:c.12207_12211delinsCAGAA XP_016864667.1:p.Asp4069=
XM_017009179.2:c.12207_12211delinsCAGAA XP_016864668.1:p.Asp4069=
XM_017009185.1:c.8391_8395delinsCAGAA XP_016864674.1:p.Asp2797=
XM_017009186.1:c.7944_7948delinsCAGAA XP_016864675.1:p.Asp2648=
XM_017009188.1:c.7281_7285delinsCAGAA XP_016864677.1:p.Asp2427=
XM_024454388.1:c.12207_12211delinsCAGAA XP_024310156.1:p.Asp4069=
XM_024454389.1:c.11796_11800delinsCAGAA XP_024310157.1:p.Asp3932=
NM_001369.3:c.13194_13198delinsCAGAA MANE Select NP_001360.1:p.Asp4398=