Canonical Allele Identifier: CA2673268371

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13771112-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13771116_13771117del , CM000667.2:g.13771116_13771117del	GRCh38
NC_000005.9:g.13771225_13771226del , CM000667.1:g.13771225_13771226del	GRCh37
NC_000005.8:g.13824225_13824226del	NCBI36
NG_013081.1:g.178367_178368del
NG_013081.2:g.178367_178368del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9374-134_9374-133del MANE Select	ENSP00000265104.4:n.9374-134_9374-133del
ENST00000681290.1:c.9329-134_9329-133del	ENSP00000505288.1:n.9329-134_9329-133del
ENST00000265104.4:c.9374-134_9374-133del	ENSP00000265104.4:n.9374-134_9374-133del
ENST00000504001.3:n.85+84_85+85del
NM_001369.2:c.9374-134_9374-133del	NP_001360.1:n.9374-134_9374-133del
XM_005248262.2:c.9329-134_9329-133del	XP_005248319.1:n.9329-134_9329-133del
XM_005248262.3:c.9482-134_9482-133del	XP_005248319.2:n.9482-134_9482-133del
XM_017009177.1:c.9482-134_9482-133del	XP_016864666.1:n.9482-134_9482-133del
XM_017009178.1:c.8387-134_8387-133del	XP_016864667.1:n.8387-134_8387-133del
XM_017009179.2:c.8387-134_8387-133del	XP_016864668.1:n.8387-134_8387-133del
XM_017009180.1:c.9482-134_9482-133del	XP_016864669.1:n.9482-134_9482-133del
XM_017009181.1:c.9482-134_9482-133del	XP_016864670.1:n.9482-134_9482-133del
XM_017009182.1:c.9482-134_9482-133del	XP_016864671.1:n.9482-134_9482-133del
XM_017009183.1:c.9482-134_9482-133del	XP_016864672.1:n.9482-134_9482-133del
XM_017009185.1:c.4571-134_4571-133del	XP_016864674.1:n.4571-134_4571-133del
XM_017009186.1:c.4124-134_4124-133del	XP_016864675.1:n.4124-134_4124-133del
XM_017009188.1:c.3461-134_3461-133del	XP_016864677.1:n.3461-134_3461-133del
XM_024454388.1:c.8387-134_8387-133del	XP_024310156.1:n.8387-134_8387-133del
XM_024454389.1:c.7976-134_7976-133del	XP_024310157.1:n.7976-134_7976-133del
NM_001369.3:c.9374-134_9374-133del MANE Select	NP_001360.1:n.9374-134_9374-133del