Canonical Allele Identifier: CA2527990983

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753384_13753433del , CM000667.2:g.13753384_13753433del	GRCh38
NC_000005.9:g.13753493_13753542del , CM000667.1:g.13753493_13753542del	GRCh37
NC_000005.8:g.13806493_13806542del	NCBI36
NG_013081.1:g.196048_196097del
NG_013081.2:g.196048_196097del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10672_10721del MANE Select	ENSP00000265104.4:p.Gly3558Ter
ENST00000681290.1:c.10627_10676del	ENSP00000505288.1:p.Gly3543Ter
ENST00000265104.4:c.10672_10721del	ENSP00000265104.4:p.Gly3558Ter
NM_001369.2:c.10672_10721del	NP_001360.1:p.Gly3558Ter
XM_005248262.2:c.10627_10676del	XP_005248319.1:p.Gly3543Ter
XM_005248262.3:c.10780_10829del	XP_005248319.2:p.Gly3594Ter
XM_017009177.1:c.10780_10829del	XP_016864666.1:p.Gly3594Ter
XM_017009178.1:c.9685_9734del	XP_016864667.1:p.Gly3229Ter
XM_017009179.2:c.9685_9734del	XP_016864668.1:p.Gly3229Ter
XM_017009180.1:c.10780_10829del	XP_016864669.1:p.Gly3594Ter
XM_017009181.1:c.10780_10829del	XP_016864670.1:p.Gly3594Ter
XM_017009182.1:c.10780_10829del	XP_016864671.1:p.Gly3594Ter
XM_017009185.1:c.5869_5918del	XP_016864674.1:p.Gly1957Ter
XM_017009186.1:c.5422_5471del	XP_016864675.1:p.Gly1808Ter
XM_017009188.1:c.4759_4808del	XP_016864677.1:p.Gly1587Ter
XM_024454388.1:c.9685_9734del	XP_024310156.1:p.Gly3229Ter
XM_024454389.1:c.9274_9323del	XP_024310157.1:p.Gly3092Ter
NM_001369.3:c.10672_10721del MANE Select	NP_001360.1:p.Gly3558Ter