Canonical Allele Identifier: CA1073399269

Gene: DNAH5

Linked Data

• dbSNP Id: rs1757041026
• gnomAD v3: 5-13791813-TTGAC-T
• gnomAD v4: 5-13791813-TTGAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13791818_13791821del , CM000667.2:g.13791818_13791821del	GRCh38
NC_000005.9:g.13791927_13791930del , CM000667.1:g.13791927_13791930del	GRCh37
NC_000005.8:g.13844927_13844930del	NCBI36
NG_013081.1:g.157664_157667del
NG_013081.2:g.157664_157667del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8448+177_8448+180del MANE Select	ENSP00000265104.4:n.8448+177_8448+180del
ENST00000681290.1:c.8403+177_8403+180del	ENSP00000505288.1:n.8403+177_8403+180del
ENST00000265104.4:c.8448+177_8448+180del	ENSP00000265104.4:n.8448+177_8448+180del
NM_001369.2:c.8448+177_8448+180del	NP_001360.1:n.8448+177_8448+180del
XM_005248262.2:c.8403+177_8403+180del	XP_005248319.1:n.8403+177_8403+180del
XM_011513990.1:c.8448+177_8448+180del	XP_011512292.1:n.8448+177_8448+180del
XR_925598.1:n.8655+177_8655+180del
XM_005248262.3:c.8556+177_8556+180del	XP_005248319.2:n.8556+177_8556+180del
XM_017009177.1:c.8556+177_8556+180del	XP_016864666.1:n.8556+177_8556+180del
XM_017009178.1:c.7461+177_7461+180del	XP_016864667.1:n.7461+177_7461+180del
XM_017009179.2:c.7461+177_7461+180del	XP_016864668.1:n.7461+177_7461+180del
XM_017009180.1:c.8556+177_8556+180del	XP_016864669.1:n.8556+177_8556+180del
XM_017009181.1:c.8556+177_8556+180del	XP_016864670.1:n.8556+177_8556+180del
XM_017009182.1:c.8556+177_8556+180del	XP_016864671.1:n.8556+177_8556+180del
XM_017009183.1:c.8556+177_8556+180del	XP_016864672.1:n.8556+177_8556+180del
XM_017009184.1:c.8556+177_8556+180del	XP_016864673.1:n.8556+177_8556+180del
XM_017009185.1:c.3645+177_3645+180del	XP_016864674.1:n.3645+177_3645+180del
XM_017009186.1:c.3198+177_3198+180del	XP_016864675.1:n.3198+177_3198+180del
XM_017009188.1:c.2535+177_2535+180del	XP_016864677.1:n.2535+177_2535+180del
XM_024454388.1:c.7461+177_7461+180del	XP_024310156.1:n.7461+177_7461+180del
XM_024454389.1:c.7050+177_7050+180del	XP_024310157.1:n.7050+177_7050+180del
XR_001742034.1:n.8573+177_8573+180del
XR_001742035.1:n.8573+177_8573+180del
NM_001369.3:c.8448+177_8448+180del MANE Select	NP_001360.1:n.8448+177_8448+180del