Canonical Allele Identifier: CA1528399785
Gene: DNAH5 HGNC NCBI

Linked Data

dbSNP Id: rs1742043142

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13701074del , CM000667.2:g.13701074del GRCh38
NC_000005.9:g.13701183del , CM000667.1:g.13701183del GRCh37
NC_000005.8:g.13754183del NCBI36
NG_013081.1:g.248407del
NG_013081.2:g.248407del

Transcript Alleles

HGVS Amino-acid Change
ENST00000683611.1:n.825-203del
ENST00000265104.5:c.13492-203del MANE Select ENSP00000265104.4:n.13492-203del
ENST00000681290.1:c.13447-203del ENSP00000505288.1:n.13447-203del
ENST00000265104.4:c.13492-203del ENSP00000265104.4:n.13492-203del
NM_001369.2:c.13492-203del NP_001360.1:n.13492-203del
XM_005248262.2:c.13447-203del XP_005248319.1:n.13447-203del
XM_005248262.3:c.13600-203del XP_005248319.2:n.13600-203del
XM_017009177.1:c.13180-203del XP_016864666.1:n.13180-203del
XM_017009178.1:c.12505-203del XP_016864667.1:n.12505-203del
XM_017009179.2:c.12505-203del XP_016864668.1:n.12505-203del
XM_017009185.1:c.8689-203del XP_016864674.1:n.8689-203del
XM_017009186.1:c.8242-203del XP_016864675.1:n.8242-203del
XM_017009188.1:c.7579-203del XP_016864677.1:n.7579-203del
XM_024454388.1:c.12505-203del XP_024310156.1:n.12505-203del
XM_024454389.1:c.12094-203del XP_024310157.1:n.12094-203del
NM_001369.3:c.13492-203del MANE Select NP_001360.1:n.13492-203del