Canonical Allele Identifier: CA2673266640

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13708220-AGCTCAGTGAGGGTGCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708223_13708238del , CM000667.2:g.13708223_13708238del	GRCh38
NC_000005.9:g.13708332_13708347del , CM000667.1:g.13708332_13708347del	GRCh37
NC_000005.8:g.13761332_13761347del	NCBI36
NG_013081.1:g.241245_241260del
NG_013081.2:g.241245_241260del

Transcript Alleles

HGVS	Amino-acid change
ENST00000683611.1:n.558_573del
ENST00000265104.5:c.13225_13240del MANE Select	ENSP00000265104.4:p.Ser4409Ter
ENST00000681290.1:c.13180_13195del	ENSP00000505288.1:p.Ser4394Ter
ENST00000265104.4:c.13225_13240del	ENSP00000265104.4:p.Ser4409Ter
NM_001369.2:c.13225_13240del	NP_001360.1:p.Ser4409Ter
XM_005248262.2:c.13180_13195del	XP_005248319.1:p.Ser4394Ter
XM_005248262.3:c.13333_13348del	XP_005248319.2:p.Ser4445Ter
XM_017009177.1:c.12913_12928del	XP_016864666.1:p.Ser4305Ter
XM_017009178.1:c.12238_12253del	XP_016864667.1:p.Ser4080Ter
XM_017009179.2:c.12238_12253del	XP_016864668.1:p.Ser4080Ter
XM_017009185.1:c.8422_8437del	XP_016864674.1:p.Ser2808Ter
XM_017009186.1:c.7975_7990del	XP_016864675.1:p.Ser2659Ter
XM_017009188.1:c.7312_7327del	XP_016864677.1:p.Ser2438Ter
XM_024454388.1:c.12238_12253del	XP_024310156.1:p.Ser4080Ter
XM_024454389.1:c.11827_11842del	XP_024310157.1:p.Ser3943Ter
NM_001369.3:c.13225_13240del MANE Select	NP_001360.1:p.Ser4409Ter