Canonical Allele Identifier: CA915943293

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 640607
• ClinVar RCV Id: RCV000793663
• dbSNP Id: rs1580457416
• gnomAD v4: 5-13829529-TCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13829534_13829535del , CM000667.2:g.13829534_13829535del	GRCh38
NC_000005.9:g.13829643_13829644del , CM000667.1:g.13829643_13829644del	GRCh37
NC_000005.8:g.13882643_13882644del	NCBI36
NG_013081.1:g.119950_119951del
NG_013081.2:g.119950_119951del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683090.1:n.1354_1355del
ENST00000265104.5:c.6423_6424del MANE Select	ENSP00000265104.4:p.Cys2141Ter
ENST00000681290.1:c.6378_6379del	ENSP00000505288.1:p.Cys2126Ter
ENST00000265104.4:c.6423_6424del	ENSP00000265104.4:p.Cys2141Ter
NM_001369.2:c.6423_6424del	NP_001360.1:p.Cys2141Ter
XM_005248262.2:c.6378_6379del	XP_005248319.1:p.Cys2126Ter
XM_011513990.1:c.6423_6424del	XP_011512292.1:p.Cys2141Ter
XR_925598.1:n.6630_6631del
XM_005248262.3:c.6531_6532del	XP_005248319.2:p.Cys2177Ter
XM_017009177.1:c.6531_6532del	XP_016864666.1:p.Cys2177Ter
XM_017009178.1:c.5436_5437del	XP_016864667.1:p.Cys1812Ter
XM_017009179.2:c.5436_5437del	XP_016864668.1:p.Cys1812Ter
XM_017009180.1:c.6531_6532del	XP_016864669.1:p.Cys2177Ter
XM_017009181.1:c.6531_6532del	XP_016864670.1:p.Cys2177Ter
XM_017009182.1:c.6531_6532del	XP_016864671.1:p.Cys2177Ter
XM_017009183.1:c.6531_6532del	XP_016864672.1:p.Cys2177Ter
XM_017009184.1:c.6531_6532del	XP_016864673.1:p.Cys2177Ter
XM_017009185.1:c.1620_1621del	XP_016864674.1:p.Cys540Ter
XM_017009186.1:c.1173_1174del	XP_016864675.1:p.Cys391Ter
XM_017009187.1:c.6531_6532del	XP_016864676.1:p.Cys2177Ter
XM_017009188.1:c.510_511del	XP_016864677.1:p.Cys170Ter
XM_024454388.1:c.5436_5437del	XP_024310156.1:p.Cys1812Ter
XM_024454389.1:c.5025_5026del	XP_024310157.1:p.Cys1675Ter
XR_001742034.1:n.6548_6549del
XR_001742035.1:n.6548_6549del
NM_001369.3:c.6423_6424del MANE Select	NP_001360.1:p.Cys2141Ter