Canonical Allele Identifier: CA2673270452

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13753472-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753473del , CM000667.2:g.13753473del	GRCh38
NC_000005.9:g.13753582del , CM000667.1:g.13753582del	GRCh37
NC_000005.8:g.13806582del	NCBI36
NG_013081.1:g.196008del
NG_013081.2:g.196008del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10632del MANE Select	ENSP00000265104.4:p.Asn3544LysfsTer7
ENST00000681290.1:c.10587del	ENSP00000505288.1:p.Asn3529LysfsTer7
ENST00000265104.4:c.10632del	ENSP00000265104.4:p.Asn3544LysfsTer7
NM_001369.2:c.10632del	NP_001360.1:p.Asn3544LysfsTer7
XM_005248262.2:c.10587del	XP_005248319.1:p.Asn3529LysfsTer7
XM_005248262.3:c.10740del	XP_005248319.2:p.Asn3580LysfsTer7
XM_017009177.1:c.10740del	XP_016864666.1:p.Asn3580LysfsTer7
XM_017009178.1:c.9645del	XP_016864667.1:p.Asn3215LysfsTer7
XM_017009179.2:c.9645del	XP_016864668.1:p.Asn3215LysfsTer7
XM_017009180.1:c.10740del	XP_016864669.1:p.Asn3580LysfsTer7
XM_017009181.1:c.10740del	XP_016864670.1:p.Asn3580LysfsTer7
XM_017009182.1:c.10740del	XP_016864671.1:p.Asn3580LysfsTer7
XM_017009185.1:c.5829del	XP_016864674.1:p.Asn1943LysfsTer7
XM_017009186.1:c.5382del	XP_016864675.1:p.Asn1794LysfsTer7
XM_017009188.1:c.4719del	XP_016864677.1:p.Asn1573LysfsTer7
XM_024454388.1:c.9645del	XP_024310156.1:p.Asn3215LysfsTer7
XM_024454389.1:c.9234del	XP_024310157.1:p.Asn3078LysfsTer7
NM_001369.3:c.10632del MANE Select	NP_001360.1:p.Asn3544LysfsTer7