Canonical Allele Identifier: CA2708214144
Gene: DNAH5 HGNC NCBI

Linked Data

dbSNP Id: rs2126693569

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13751965_13751970dup , CM000667.2:g.13751965_13751970dup GRCh38
NC_000005.9:g.13752074_13752079dup , CM000667.1:g.13752074_13752079dup GRCh37
NC_000005.8:g.13805074_13805079dup NCBI36
NG_013081.1:g.197512_197517dup
NG_013081.2:g.197512_197517dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.11028+165_11028+170dup MANE Select ENSP00000265104.4:n.11028+165_11028+170dup
ENST00000681290.1:c.10983+165_10983+170dup ENSP00000505288.1:n.10983+165_10983+170dup
ENST00000265104.4:c.11028+165_11028+170dup ENSP00000265104.4:n.11028+165_11028+170dup
NM_001369.2:c.11028+165_11028+170dup NP_001360.1:n.11028+165_11028+170dup
XM_005248262.2:c.10983+165_10983+170dup XP_005248319.1:n.10983+165_10983+170dup
XM_005248262.3:c.11136+165_11136+170dup XP_005248319.2:n.11136+165_11136+170dup
XM_017009177.1:c.11136+165_11136+170dup XP_016864666.1:n.11136+165_11136+170dup
XM_017009178.1:c.10041+165_10041+170dup XP_016864667.1:n.10041+165_10041+170dup
XM_017009179.2:c.10041+165_10041+170dup XP_016864668.1:n.10041+165_10041+170dup
XM_017009180.1:c.11136+165_11136+170dup XP_016864669.1:n.11136+165_11136+170dup
XM_017009181.1:c.11136+165_11136+170dup XP_016864670.1:n.11136+165_11136+170dup
XM_017009182.1:c.11136+165_11136+170dup XP_016864671.1:n.11136+165_11136+170dup
XM_017009185.1:c.6225+165_6225+170dup XP_016864674.1:n.6225+165_6225+170dup
XM_017009186.1:c.5778+165_5778+170dup XP_016864675.1:n.5778+165_5778+170dup
XM_017009188.1:c.5115+165_5115+170dup XP_016864677.1:n.5115+165_5115+170dup
XM_024454388.1:c.10041+165_10041+170dup XP_024310156.1:n.10041+165_10041+170dup
XM_024454389.1:c.9630+165_9630+170dup XP_024310157.1:n.9630+165_9630+170dup
NM_001369.3:c.11028+165_11028+170dup MANE Select NP_001360.1:n.11028+165_11028+170dup