Canonical Allele Identifier: CA443250539

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13701323del , CM000667.2:g.13701323del	GRCh38
NC_000005.9:g.13701432del , CM000667.1:g.13701432del	GRCh37
NC_000005.8:g.13754432del	NCBI36
NG_013081.1:g.248164del
NG_013081.2:g.248164del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.791del
ENST00000265104.5:c.13458del MANE Select	ENSP00000265104.4:p.Phe4486LeufsTer7
ENST00000681290.1:c.13413del	ENSP00000505288.1:p.Phe4471LeufsTer7
ENST00000265104.4:c.13458del	ENSP00000265104.4:p.Phe4486LeufsTer7
NM_001369.2:c.13458del	NP_001360.1:p.Phe4486LeufsTer7
XM_005248262.2:c.13413del	XP_005248319.1:p.Phe4471LeufsTer7
XM_005248262.3:c.13566del	XP_005248319.2:p.Phe4522LeufsTer7
XM_017009177.1:c.13146del	XP_016864666.1:p.Phe4382LeufsTer7
XM_017009178.1:c.12471del	XP_016864667.1:p.Phe4157LeufsTer7
XM_017009179.2:c.12471del	XP_016864668.1:p.Phe4157LeufsTer7
XM_017009185.1:c.8655del	XP_016864674.1:p.Phe2885LeufsTer7
XM_017009186.1:c.8208del	XP_016864675.1:p.Phe2736LeufsTer7
XM_017009188.1:c.7545del	XP_016864677.1:p.Phe2515LeufsTer7
XM_024454388.1:c.12471del	XP_024310156.1:p.Phe4157LeufsTer7
XM_024454389.1:c.12060del	XP_024310157.1:p.Phe4020LeufsTer7
NM_001369.3:c.13458del MANE Select	NP_001360.1:p.Phe4486LeufsTer7