Canonical Allele Identifier: CA2673269719

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13769075-TTCTGTACC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769078_13769085del , CM000667.2:g.13769078_13769085del	GRCh38
NC_000005.9:g.13769187_13769194del , CM000667.1:g.13769187_13769194del	GRCh37
NC_000005.8:g.13822187_13822194del	NCBI36
NG_013081.1:g.180398_180405del
NG_013081.2:g.180398_180405del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9774_9781del MANE Select	ENSP00000265104.4:p.Val3259GlyfsTer14
ENST00000681290.1:c.9729_9736del	ENSP00000505288.1:p.Val3244GlyfsTer14
ENST00000265104.4:c.9774_9781del	ENSP00000265104.4:p.Val3259GlyfsTer14
ENST00000504001.3:n.486_493del
NM_001369.2:c.9774_9781del	NP_001360.1:p.Val3259GlyfsTer14
XM_005248262.2:c.9729_9736del	XP_005248319.1:p.Val3244GlyfsTer14
XM_005248262.3:c.9882_9889del	XP_005248319.2:p.Val3295GlyfsTer14
XM_017009177.1:c.9882_9889del	XP_016864666.1:p.Val3295GlyfsTer14
XM_017009178.1:c.8787_8794del	XP_016864667.1:p.Val2930GlyfsTer14
XM_017009179.2:c.8787_8794del	XP_016864668.1:p.Val2930GlyfsTer14
XM_017009180.1:c.9882_9889del	XP_016864669.1:p.Val3295GlyfsTer14
XM_017009181.1:c.9882_9889del	XP_016864670.1:p.Val3295GlyfsTer14
XM_017009182.1:c.9882_9889del	XP_016864671.1:p.Val3295GlyfsTer14
XM_017009185.1:c.4971_4978del	XP_016864674.1:p.Val1658GlyfsTer14
XM_017009186.1:c.4524_4531del	XP_016864675.1:p.Val1509GlyfsTer14
XM_017009188.1:c.3861_3868del	XP_016864677.1:p.Val1288GlyfsTer14
XM_024454388.1:c.8787_8794del	XP_024310156.1:p.Val2930GlyfsTer14
XM_024454389.1:c.8376_8383del	XP_024310157.1:p.Val2793GlyfsTer14
NM_001369.3:c.9774_9781del MANE Select	NP_001360.1:p.Val3259GlyfsTer14