Canonical Allele Identifier: CA2673274332

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13841882-ATTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13841883_13841885del , CM000667.2:g.13841883_13841885del	GRCh38
NC_000005.9:g.13841992_13841994del , CM000667.1:g.13841992_13841994del	GRCh37
NC_000005.8:g.13894992_13894994del	NCBI36
NG_013081.1:g.107596_107598del
NG_013081.2:g.107596_107598del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.5291_5293del MANE Select	ENSP00000265104.4:p.Ser1764_Ile1765delinsPhe
ENST00000681290.1:c.5246_5248del	ENSP00000505288.1:p.Ser1749_Ile1750delinsPhe
ENST00000265104.4:c.5291_5293del	ENSP00000265104.4:p.Ser1764_Ile1765delinsPhe
NM_001369.2:c.5291_5293del	NP_001360.1:p.Ser1764_Ile1765delinsPhe
XM_005248262.2:c.5246_5248del	XP_005248319.1:p.Ser1749_Ile1750delinsPhe
XM_011513990.1:c.5291_5293del	XP_011512292.1:p.Ser1764_Ile1765delinsPhe
XR_925598.1:n.5498_5500del
XM_005248262.3:c.5399_5401del	XP_005248319.2:p.Ser1800_Ile1801delinsPhe
XM_017009177.1:c.5399_5401del	XP_016864666.1:p.Ser1800_Ile1801delinsPhe
XM_017009178.1:c.4304_4306del	XP_016864667.1:p.Ser1435_Ile1436delinsPhe
XM_017009179.2:c.4304_4306del	XP_016864668.1:p.Ser1435_Ile1436delinsPhe
XM_017009180.1:c.5399_5401del	XP_016864669.1:p.Ser1800_Ile1801delinsPhe
XM_017009181.1:c.5399_5401del	XP_016864670.1:p.Ser1800_Ile1801delinsPhe
XM_017009182.1:c.5399_5401del	XP_016864671.1:p.Ser1800_Ile1801delinsPhe
XM_017009183.1:c.5399_5401del	XP_016864672.1:p.Ser1800_Ile1801delinsPhe
XM_017009184.1:c.5399_5401del	XP_016864673.1:p.Ser1800_Ile1801delinsPhe
XM_017009185.1:c.488_490del	XP_016864674.1:p.Ser163_Ile164delinsPhe
XM_017009186.1:c.41_43del	XP_016864675.1:p.Ser14_Ile15delinsPhe
XM_017009187.1:c.5399_5401del	XP_016864676.1:p.Ser1800_Ile1801delinsPhe
XM_024454388.1:c.4304_4306del	XP_024310156.1:p.Ser1435_Ile1436delinsPhe
XM_024454389.1:c.3893_3895del	XP_024310157.1:p.Ser1298_Ile1299delinsPhe
XR_001742034.1:n.5416_5418del
XR_001742035.1:n.5416_5418del
NM_001369.3:c.5291_5293del MANE Select	NP_001360.1:p.Ser1764_Ile1765delinsPhe