Canonical Allele Identifier: CA359190393
Gene: DNAH5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.13752253del (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13752254del , CM000667.2:g.13752254del GRCh38
NC_000005.9:g.13752363del , CM000667.1:g.13752363del GRCh37
NC_000005.8:g.13805363del NCBI36
NG_013081.1:g.197228del
NG_013081.2:g.197228del

Transcript Alleles

HGVS Amino-acid change
ENST00000265104.5:c.10909del MANE Select ENSP00000265104.4:p.Leu3637TrpfsTer20
ENST00000681290.1:c.10864del ENSP00000505288.1:p.Leu3622TrpfsTer20
ENST00000265104.4:c.10909del ENSP00000265104.4:p.Leu3637TrpfsTer20
NM_001369.2:c.10909del NP_001360.1:p.Leu3637TrpfsTer20
XM_005248262.2:c.10864del XP_005248319.1:p.Leu3622TrpfsTer20
XM_005248262.3:c.11017del XP_005248319.2:p.Leu3673TrpfsTer20
XM_017009177.1:c.11017del XP_016864666.1:p.Leu3673TrpfsTer20
XM_017009178.1:c.9922del XP_016864667.1:p.Leu3308TrpfsTer20
XM_017009179.2:c.9922del XP_016864668.1:p.Leu3308TrpfsTer20
XM_017009180.1:c.11017del XP_016864669.1:p.Leu3673TrpfsTer20
XM_017009181.1:c.11017del XP_016864670.1:p.Leu3673TrpfsTer20
XM_017009182.1:c.11017del XP_016864671.1:p.Leu3673TrpfsTer20
XM_017009185.1:c.6106del XP_016864674.1:p.Leu2036TrpfsTer20
XM_017009186.1:c.5659del XP_016864675.1:p.Leu1887TrpfsTer20
XM_017009188.1:c.4996del XP_016864677.1:p.Leu1666TrpfsTer20
XM_024454388.1:c.9922del XP_024310156.1:p.Leu3308TrpfsTer20
XM_024454389.1:c.9511del XP_024310157.1:p.Leu3171TrpfsTer20
NM_001369.3:c.10909del MANE Select NP_001360.1:p.Leu3637TrpfsTer20