Canonical Allele Identifier: CA1139771924

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1210267
• ClinVar RCV Id: RCV001580344 ; RCV002501936
• dbSNP Id: rs1757084798
• gnomAD v4: 5-13792081-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13792081_13792082insA , CM000667.2:g.13792081_13792082insA	GRCh38
NC_000005.9:g.13792190_13792191insA , CM000667.1:g.13792190_13792191insA	GRCh37
NC_000005.8:g.13845190_13845191insA	NCBI36
NG_013081.1:g.157399_157400insT
NG_013081.2:g.157399_157400insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8360_8361insT MANE Select	ENSP00000265104.4:p.Lys2787AsnfsTer7
ENST00000681290.1:c.8315_8316insT	ENSP00000505288.1:p.Lys2772AsnfsTer7
ENST00000265104.4:c.8360_8361insT	ENSP00000265104.4:p.Lys2787AsnfsTer7
NM_001369.2:c.8360_8361insT	NP_001360.1:p.Lys2787AsnfsTer7
XM_005248262.2:c.8315_8316insT	XP_005248319.1:p.Lys2772AsnfsTer7
XM_011513990.1:c.8360_8361insT	XP_011512292.1:p.Lys2787AsnfsTer7
XR_925598.1:n.8567_8568insT
XM_005248262.3:c.8468_8469insT	XP_005248319.2:p.Lys2823AsnfsTer7
XM_017009177.1:c.8468_8469insT	XP_016864666.1:p.Lys2823AsnfsTer7
XM_017009178.1:c.7373_7374insT	XP_016864667.1:p.Lys2458AsnfsTer7
XM_017009179.2:c.7373_7374insT	XP_016864668.1:p.Lys2458AsnfsTer7
XM_017009180.1:c.8468_8469insT	XP_016864669.1:p.Lys2823AsnfsTer7
XM_017009181.1:c.8468_8469insT	XP_016864670.1:p.Lys2823AsnfsTer7
XM_017009182.1:c.8468_8469insT	XP_016864671.1:p.Lys2823AsnfsTer7
XM_017009183.1:c.8468_8469insT	XP_016864672.1:p.Lys2823AsnfsTer7
XM_017009184.1:c.8468_8469insT	XP_016864673.1:p.Lys2823AsnfsTer7
XM_017009185.1:c.3557_3558insT	XP_016864674.1:p.Lys1186AsnfsTer7
XM_017009186.1:c.3110_3111insT	XP_016864675.1:p.Lys1037AsnfsTer7
XM_017009188.1:c.2447_2448insT	XP_016864677.1:p.Lys816AsnfsTer7
XM_024454388.1:c.7373_7374insT	XP_024310156.1:p.Lys2458AsnfsTer7
XM_024454389.1:c.6962_6963insT	XP_024310157.1:p.Lys2321AsnfsTer7
XR_001742034.1:n.8485_8486insT
XR_001742035.1:n.8485_8486insT
NM_001369.3:c.8360_8361insT MANE Select	NP_001360.1:p.Lys2787AsnfsTer7