Canonical Allele Identifier: CA804440391
Gene: DNAH5 HGNC NCBI

Linked Data

dbSNP Id: rs1162658081

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13753682_13753685del , CM000667.2:g.13753682_13753685del GRCh38
NC_000005.9:g.13753791_13753794del , CM000667.1:g.13753791_13753794del GRCh37
NC_000005.8:g.13806791_13806794del NCBI36
NG_013081.1:g.195796_195799del
NG_013081.2:g.195796_195799del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.10556-136_10556-133del MANE Select ENSP00000265104.4:n.10556-136_10556-133del
ENST00000681290.1:c.10511-136_10511-133del ENSP00000505288.1:n.10511-136_10511-133del
ENST00000265104.4:c.10556-136_10556-133del ENSP00000265104.4:n.10556-136_10556-133del
NM_001369.2:c.10556-136_10556-133del NP_001360.1:n.10556-136_10556-133del
XM_005248262.2:c.10511-136_10511-133del XP_005248319.1:n.10511-136_10511-133del
XM_005248262.3:c.10664-136_10664-133del XP_005248319.2:n.10664-136_10664-133del
XM_017009177.1:c.10664-136_10664-133del XP_016864666.1:n.10664-136_10664-133del
XM_017009178.1:c.9569-136_9569-133del XP_016864667.1:n.9569-136_9569-133del
XM_017009179.2:c.9569-136_9569-133del XP_016864668.1:n.9569-136_9569-133del
XM_017009180.1:c.10664-136_10664-133del XP_016864669.1:n.10664-136_10664-133del
XM_017009181.1:c.10664-136_10664-133del XP_016864670.1:n.10664-136_10664-133del
XM_017009182.1:c.10664-136_10664-133del XP_016864671.1:n.10664-136_10664-133del
XM_017009185.1:c.5753-136_5753-133del XP_016864674.1:n.5753-136_5753-133del
XM_017009186.1:c.5306-136_5306-133del XP_016864675.1:n.5306-136_5306-133del
XM_017009188.1:c.4643-136_4643-133del XP_016864677.1:n.4643-136_4643-133del
XM_024454388.1:c.9569-136_9569-133del XP_024310156.1:n.9569-136_9569-133del
XM_024454389.1:c.9158-136_9158-133del XP_024310157.1:n.9158-136_9158-133del
NM_001369.3:c.10556-136_10556-133del MANE Select NP_001360.1:n.10556-136_10556-133del