Canonical Allele Identifier: CA2578269746

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13752062-TTCTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13752066_13752069del , CM000667.2:g.13752066_13752069del	GRCh38
NC_000005.9:g.13752175_13752178del , CM000667.1:g.13752175_13752178del	GRCh37
NC_000005.8:g.13805175_13805178del	NCBI36
NG_013081.1:g.197415_197418del
NG_013081.2:g.197415_197418del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.11028+68_11028+71del MANE Select	ENSP00000265104.4:n.11028+68_11028+71del
ENST00000681290.1:c.10983+68_10983+71del	ENSP00000505288.1:n.10983+68_10983+71del
ENST00000265104.4:c.11028+68_11028+71del	ENSP00000265104.4:n.11028+68_11028+71del
NM_001369.2:c.11028+68_11028+71del	NP_001360.1:n.11028+68_11028+71del
XM_005248262.2:c.10983+68_10983+71del	XP_005248319.1:n.10983+68_10983+71del
XM_005248262.3:c.11136+68_11136+71del	XP_005248319.2:n.11136+68_11136+71del
XM_017009177.1:c.11136+68_11136+71del	XP_016864666.1:n.11136+68_11136+71del
XM_017009178.1:c.10041+68_10041+71del	XP_016864667.1:n.10041+68_10041+71del
XM_017009179.2:c.10041+68_10041+71del	XP_016864668.1:n.10041+68_10041+71del
XM_017009180.1:c.11136+68_11136+71del	XP_016864669.1:n.11136+68_11136+71del
XM_017009181.1:c.11136+68_11136+71del	XP_016864670.1:n.11136+68_11136+71del
XM_017009182.1:c.11136+68_11136+71del	XP_016864671.1:n.11136+68_11136+71del
XM_017009185.1:c.6225+68_6225+71del	XP_016864674.1:n.6225+68_6225+71del
XM_017009186.1:c.5778+68_5778+71del	XP_016864675.1:n.5778+68_5778+71del
XM_017009188.1:c.5115+68_5115+71del	XP_016864677.1:n.5115+68_5115+71del
XM_024454388.1:c.10041+68_10041+71del	XP_024310156.1:n.10041+68_10041+71del
XM_024454389.1:c.9630+68_9630+71del	XP_024310157.1:n.9630+68_9630+71del
NM_001369.3:c.11028+68_11028+71del MANE Select	NP_001360.1:n.11028+68_11028+71del