Canonical Allele Identifier: CA2499217594

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1073620
• ClinVar RCV Id: RCV001386666
• dbSNP Id: rs2126409121

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13701305_13701323del , CM000667.2:g.13701305_13701323del	GRCh38
NC_000005.9:g.13701414_13701432del , CM000667.1:g.13701414_13701432del	GRCh37
NC_000005.8:g.13754414_13754432del	NCBI36
NG_013081.1:g.248163_248181del
NG_013081.2:g.248163_248181del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.790_808del
ENST00000265104.5:c.13457_13475del MANE Select	ENSP00000265104.4:p.Phe4486Ter
ENST00000681290.1:c.13412_13430del	ENSP00000505288.1:p.Phe4471Ter
ENST00000265104.4:c.13457_13475del	ENSP00000265104.4:p.Phe4486Ter
NM_001369.2:c.13457_13475del	NP_001360.1:p.Phe4486Ter
XM_005248262.2:c.13412_13430del	XP_005248319.1:p.Phe4471Ter
XM_005248262.3:c.13565_13583del	XP_005248319.2:p.Phe4522Ter
XM_017009177.1:c.13145_13163del	XP_016864666.1:p.Phe4382Ter
XM_017009178.1:c.12470_12488del	XP_016864667.1:p.Phe4157Ter
XM_017009179.2:c.12470_12488del	XP_016864668.1:p.Phe4157Ter
XM_017009185.1:c.8654_8672del	XP_016864674.1:p.Phe2885Ter
XM_017009186.1:c.8207_8225del	XP_016864675.1:p.Phe2736Ter
XM_017009188.1:c.7544_7562del	XP_016864677.1:p.Phe2515Ter
XM_024454388.1:c.12470_12488del	XP_024310156.1:p.Phe4157Ter
XM_024454389.1:c.12059_12077del	XP_024310157.1:p.Phe4020Ter
NM_001369.3:c.13457_13475del MANE Select	NP_001360.1:p.Phe4486Ter