Canonical Allele Identifier: CA2673268575

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13771310-AAATAACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13771311_13771317del , CM000667.2:g.13771311_13771317del	GRCh38
NC_000005.9:g.13771420_13771426del , CM000667.1:g.13771420_13771426del	GRCh37
NC_000005.8:g.13824420_13824426del	NCBI36
NG_013081.1:g.178164_178170del
NG_013081.2:g.178164_178170del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9374-337_9374-331del MANE Select	ENSP00000265104.4:n.9374-337_9374-331del
ENST00000681290.1:c.9329-337_9329-331del	ENSP00000505288.1:n.9329-337_9329-331del
ENST00000265104.4:c.9374-337_9374-331del	ENSP00000265104.4:n.9374-337_9374-331del
NM_001369.2:c.9374-337_9374-331del	NP_001360.1:n.9374-337_9374-331del
XM_005248262.2:c.9329-337_9329-331del	XP_005248319.1:n.9329-337_9329-331del
XM_005248262.3:c.9482-337_9482-331del	XP_005248319.2:n.9482-337_9482-331del
XM_017009177.1:c.9482-337_9482-331del	XP_016864666.1:n.9482-337_9482-331del
XM_017009178.1:c.8387-337_8387-331del	XP_016864667.1:n.8387-337_8387-331del
XM_017009179.2:c.8387-337_8387-331del	XP_016864668.1:n.8387-337_8387-331del
XM_017009180.1:c.9482-337_9482-331del	XP_016864669.1:n.9482-337_9482-331del
XM_017009181.1:c.9482-337_9482-331del	XP_016864670.1:n.9482-337_9482-331del
XM_017009182.1:c.9482-337_9482-331del	XP_016864671.1:n.9482-337_9482-331del
XM_017009183.1:c.9482-337_9482-331del	XP_016864672.1:n.9482-337_9482-331del
XM_017009185.1:c.4571-337_4571-331del	XP_016864674.1:n.4571-337_4571-331del
XM_017009186.1:c.4124-337_4124-331del	XP_016864675.1:n.4124-337_4124-331del
XM_017009188.1:c.3461-337_3461-331del	XP_016864677.1:n.3461-337_3461-331del
XM_024454388.1:c.8387-337_8387-331del	XP_024310156.1:n.8387-337_8387-331del
XM_024454389.1:c.7976-337_7976-331del	XP_024310157.1:n.7976-337_7976-331del
NM_001369.3:c.9374-337_9374-331del MANE Select	NP_001360.1:n.9374-337_9374-331del