Canonical Allele Identifier: CA1073399285

Gene: DNAH5

Linked Data

• dbSNP Id: rs1757044991
• gnomAD v3: 5-13791845-TTA-T
• gnomAD v4: 5-13791845-TTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13791847_13791848del , CM000667.2:g.13791847_13791848del	GRCh38
NC_000005.9:g.13791956_13791957del , CM000667.1:g.13791956_13791957del	GRCh37
NC_000005.8:g.13844956_13844957del	NCBI36
NG_013081.1:g.157634_157635del
NG_013081.2:g.157634_157635del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8448+147_8448+148del MANE Select	ENSP00000265104.4:n.8448+147_8448+148del
ENST00000681290.1:c.8403+147_8403+148del	ENSP00000505288.1:n.8403+147_8403+148del
ENST00000265104.4:c.8448+147_8448+148del	ENSP00000265104.4:n.8448+147_8448+148del
NM_001369.2:c.8448+147_8448+148del	NP_001360.1:n.8448+147_8448+148del
XM_005248262.2:c.8403+147_8403+148del	XP_005248319.1:n.8403+147_8403+148del
XM_011513990.1:c.8448+147_8448+148del	XP_011512292.1:n.8448+147_8448+148del
XR_925598.1:n.8655+147_8655+148del
XM_005248262.3:c.8556+147_8556+148del	XP_005248319.2:n.8556+147_8556+148del
XM_017009177.1:c.8556+147_8556+148del	XP_016864666.1:n.8556+147_8556+148del
XM_017009178.1:c.7461+147_7461+148del	XP_016864667.1:n.7461+147_7461+148del
XM_017009179.2:c.7461+147_7461+148del	XP_016864668.1:n.7461+147_7461+148del
XM_017009180.1:c.8556+147_8556+148del	XP_016864669.1:n.8556+147_8556+148del
XM_017009181.1:c.8556+147_8556+148del	XP_016864670.1:n.8556+147_8556+148del
XM_017009182.1:c.8556+147_8556+148del	XP_016864671.1:n.8556+147_8556+148del
XM_017009183.1:c.8556+147_8556+148del	XP_016864672.1:n.8556+147_8556+148del
XM_017009184.1:c.8556+147_8556+148del	XP_016864673.1:n.8556+147_8556+148del
XM_017009185.1:c.3645+147_3645+148del	XP_016864674.1:n.3645+147_3645+148del
XM_017009186.1:c.3198+147_3198+148del	XP_016864675.1:n.3198+147_3198+148del
XM_017009188.1:c.2535+147_2535+148del	XP_016864677.1:n.2535+147_2535+148del
XM_024454388.1:c.7461+147_7461+148del	XP_024310156.1:n.7461+147_7461+148del
XM_024454389.1:c.7050+147_7050+148del	XP_024310157.1:n.7050+147_7050+148del
XR_001742034.1:n.8573+147_8573+148del
XR_001742035.1:n.8573+147_8573+148del
NM_001369.3:c.8448+147_8448+148del MANE Select	NP_001360.1:n.8448+147_8448+148del