Canonical Allele Identifier: CA273615
Gene: DNAH5 HGNC NCBI

Linked Data

ClinVar Variation Id: 179339
ClinVar RCV Id: RCV000156128 RCV000492880
dbSNP Id: rs727504802
MyVariant Identifiers: chr5:g.13771014del (hg19) chr5:g.13770905del (hg38)
PubMed: PMID:11788826 PMID:16627867 PMID:23477994
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13770907del , CM000667.2:g.13770907del GRCh38
NC_000005.9:g.13771016del , CM000667.1:g.13771016del GRCh37
NC_000005.8:g.13824016del NCBI36
NG_013081.1:g.178576del
NG_013081.2:g.178576del

Transcript Alleles

HGVS Amino-acid change
ENST00000265104.5:c.9449del MANE Select ENSP00000265104.4:p.Gly3150AlafsTer24
ENST00000681290.1:c.9404del ENSP00000505288.1:p.Gly3135AlafsTer24
ENST00000265104.4:c.9449del ENSP00000265104.4:p.Gly3150AlafsTer24
ENST00000504001.3:n.161del
NM_001369.2:c.9449del NP_001360.1:p.Gly3150AlafsTer24
XM_005248262.2:c.9404del XP_005248319.1:p.Gly3135AlafsTer24
XM_005248262.3:c.9557del XP_005248319.2:p.Gly3186AlafsTer24
XM_017009177.1:c.9557del XP_016864666.1:p.Gly3186AlafsTer24
XM_017009178.1:c.8462del XP_016864667.1:p.Gly2821AlafsTer24
XM_017009179.2:c.8462del XP_016864668.1:p.Gly2821AlafsTer24
XM_017009180.1:c.9557del XP_016864669.1:p.Gly3186AlafsTer24
XM_017009181.1:c.9557del XP_016864670.1:p.Gly3186AlafsTer24
XM_017009182.1:c.9557del XP_016864671.1:p.Gly3186AlafsTer24
XM_017009183.1:c.9557del XP_016864672.1:p.Gly3186AlafsTer24
XM_017009185.1:c.4646del XP_016864674.1:p.Gly1549AlafsTer24
XM_017009186.1:c.4199del XP_016864675.1:p.Gly1400AlafsTer24
XM_017009188.1:c.3536del XP_016864677.1:p.Gly1179AlafsTer24
XM_024454388.1:c.8462del XP_024310156.1:p.Gly2821AlafsTer24
XM_024454389.1:c.8051del XP_024310157.1:p.Gly2684AlafsTer24
NM_001369.3:c.9449del MANE Select NP_001360.1:p.Gly3150AlafsTer24
Search 100 bp 5'
Search 100 bp 3'