Canonical Allele Identifier: CA1528423669
Gene: DNAH5 HGNC NCBI

Linked Data

dbSNP Id: rs1750595447

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13753807_13753810del , CM000667.2:g.13753807_13753810del GRCh38
NC_000005.9:g.13753916_13753919del , CM000667.1:g.13753916_13753919del GRCh37
NC_000005.8:g.13806916_13806919del NCBI36
NG_013081.1:g.195671_195674del
NG_013081.2:g.195671_195674del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.10556-261_10556-258del MANE Select ENSP00000265104.4:n.10556-261_10556-258del
ENST00000681290.1:c.10511-261_10511-258del ENSP00000505288.1:n.10511-261_10511-258del
ENST00000265104.4:c.10556-261_10556-258del ENSP00000265104.4:n.10556-261_10556-258del
NM_001369.2:c.10556-261_10556-258del NP_001360.1:n.10556-261_10556-258del
XM_005248262.2:c.10511-261_10511-258del XP_005248319.1:n.10511-261_10511-258del
XM_005248262.3:c.10664-261_10664-258del XP_005248319.2:n.10664-261_10664-258del
XM_017009177.1:c.10664-261_10664-258del XP_016864666.1:n.10664-261_10664-258del
XM_017009178.1:c.9569-261_9569-258del XP_016864667.1:n.9569-261_9569-258del
XM_017009179.2:c.9569-261_9569-258del XP_016864668.1:n.9569-261_9569-258del
XM_017009180.1:c.10664-261_10664-258del XP_016864669.1:n.10664-261_10664-258del
XM_017009181.1:c.10664-261_10664-258del XP_016864670.1:n.10664-261_10664-258del
XM_017009182.1:c.10664-261_10664-258del XP_016864671.1:n.10664-261_10664-258del
XM_017009185.1:c.5753-261_5753-258del XP_016864674.1:n.5753-261_5753-258del
XM_017009186.1:c.5306-261_5306-258del XP_016864675.1:n.5306-261_5306-258del
XM_017009188.1:c.4643-261_4643-258del XP_016864677.1:n.4643-261_4643-258del
XM_024454388.1:c.9569-261_9569-258del XP_024310156.1:n.9569-261_9569-258del
XM_024454389.1:c.9158-261_9158-258del XP_024310157.1:n.9158-261_9158-258del
NM_001369.3:c.10556-261_10556-258del MANE Select NP_001360.1:n.10556-261_10556-258del