Canonical Allele Identifier: CA1528403744

Gene: DNAH5

Linked Data

• dbSNP Id: rs1743039090

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708163_13708164del , CM000667.2:g.13708163_13708164del	GRCh38
NC_000005.9:g.13708272_13708273del , CM000667.1:g.13708272_13708273del	GRCh37
NC_000005.8:g.13761272_13761273del	NCBI36
NG_013081.1:g.241317_241318del
NG_013081.2:g.241317_241318del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.630_631del
ENST00000265104.5:c.13297_13298del MANE Select	ENSP00000265104.4:p.Asp4433LeufsTer4
ENST00000681290.1:c.13252_13253del	ENSP00000505288.1:p.Asp4418LeufsTer4
ENST00000265104.4:c.13297_13298del	ENSP00000265104.4:p.Asp4433LeufsTer4
NM_001369.2:c.13297_13298del	NP_001360.1:p.Asp4433LeufsTer4
XM_005248262.2:c.13252_13253del	XP_005248319.1:p.Asp4418LeufsTer4
XM_005248262.3:c.13405_13406del	XP_005248319.2:p.Asp4469LeufsTer4
XM_017009177.1:c.12985_12986del	XP_016864666.1:p.Asp4329LeufsTer4
XM_017009178.1:c.12310_12311del	XP_016864667.1:p.Asp4104LeufsTer4
XM_017009179.2:c.12310_12311del	XP_016864668.1:p.Asp4104LeufsTer4
XM_017009185.1:c.8494_8495del	XP_016864674.1:p.Asp2832LeufsTer4
XM_017009186.1:c.8047_8048del	XP_016864675.1:p.Asp2683LeufsTer4
XM_017009188.1:c.7384_7385del	XP_016864677.1:p.Asp2462LeufsTer4
XM_024454388.1:c.12310_12311del	XP_024310156.1:p.Asp4104LeufsTer4
XM_024454389.1:c.11899_11900del	XP_024310157.1:p.Asp3967LeufsTer4
NM_001369.3:c.13297_13298del MANE Select	NP_001360.1:p.Asp4433LeufsTer4