Canonical Allele Identifier: CA2673270453

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13753496-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753498del , CM000667.2:g.13753498del	GRCh38
NC_000005.9:g.13753607del , CM000667.1:g.13753607del	GRCh37
NC_000005.8:g.13806607del	NCBI36
NG_013081.1:g.195984del
NG_013081.2:g.195984del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10608del MANE Select	ENSP00000265104.4:p.Glu3537SerfsTer7
ENST00000681290.1:c.10563del	ENSP00000505288.1:p.Glu3522SerfsTer7
ENST00000265104.4:c.10608del	ENSP00000265104.4:p.Glu3537SerfsTer7
NM_001369.2:c.10608del	NP_001360.1:p.Glu3537SerfsTer7
XM_005248262.2:c.10563del	XP_005248319.1:p.Glu3522SerfsTer7
XM_005248262.3:c.10716del	XP_005248319.2:p.Glu3573SerfsTer7
XM_017009177.1:c.10716del	XP_016864666.1:p.Glu3573SerfsTer7
XM_017009178.1:c.9621del	XP_016864667.1:p.Glu3208SerfsTer7
XM_017009179.2:c.9621del	XP_016864668.1:p.Glu3208SerfsTer7
XM_017009180.1:c.10716del	XP_016864669.1:p.Glu3573SerfsTer7
XM_017009181.1:c.10716del	XP_016864670.1:p.Glu3573SerfsTer7
XM_017009182.1:c.10716del	XP_016864671.1:p.Glu3573SerfsTer7
XM_017009185.1:c.5805del	XP_016864674.1:p.Glu1936SerfsTer7
XM_017009186.1:c.5358del	XP_016864675.1:p.Glu1787SerfsTer7
XM_017009188.1:c.4695del	XP_016864677.1:p.Glu1566SerfsTer7
XM_024454388.1:c.9621del	XP_024310156.1:p.Glu3208SerfsTer7
XM_024454389.1:c.9210del	XP_024310157.1:p.Glu3071SerfsTer7
NM_001369.3:c.10608del MANE Select	NP_001360.1:p.Glu3537SerfsTer7