Canonical Allele Identifier: CA1528423519

Gene: DNAH5

Linked Data

• dbSNP Id: rs1750542270

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753459_13753463dup , CM000667.2:g.13753459_13753463dup	GRCh38
NC_000005.9:g.13753568_13753572dup , CM000667.1:g.13753568_13753572dup	GRCh37
NC_000005.8:g.13806568_13806572dup	NCBI36
NG_013081.1:g.196020_196024dup
NG_013081.2:g.196020_196024dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10644_10648dup MANE Select	ENSP00000265104.4:p.Met3550ArgfsTer3
ENST00000681290.1:c.10599_10603dup	ENSP00000505288.1:p.Met3535ArgfsTer3
ENST00000265104.4:c.10644_10648dup	ENSP00000265104.4:p.Met3550ArgfsTer3
NM_001369.2:c.10644_10648dup	NP_001360.1:p.Met3550ArgfsTer3
XM_005248262.2:c.10599_10603dup	XP_005248319.1:p.Met3535ArgfsTer3
XM_005248262.3:c.10752_10756dup	XP_005248319.2:p.Met3586ArgfsTer3
XM_017009177.1:c.10752_10756dup	XP_016864666.1:p.Met3586ArgfsTer3
XM_017009178.1:c.9657_9661dup	XP_016864667.1:p.Met3221ArgfsTer3
XM_017009179.2:c.9657_9661dup	XP_016864668.1:p.Met3221ArgfsTer3
XM_017009180.1:c.10752_10756dup	XP_016864669.1:p.Met3586ArgfsTer3
XM_017009181.1:c.10752_10756dup	XP_016864670.1:p.Met3586ArgfsTer3
XM_017009182.1:c.10752_10756dup	XP_016864671.1:p.Met3586ArgfsTer3
XM_017009185.1:c.5841_5845dup	XP_016864674.1:p.Met1949ArgfsTer3
XM_017009186.1:c.5394_5398dup	XP_016864675.1:p.Met1800ArgfsTer3
XM_017009188.1:c.4731_4735dup	XP_016864677.1:p.Met1579ArgfsTer3
XM_024454388.1:c.9657_9661dup	XP_024310156.1:p.Met3221ArgfsTer3
XM_024454389.1:c.9246_9250dup	XP_024310157.1:p.Met3084ArgfsTer3
NM_001369.3:c.10644_10648dup MANE Select	NP_001360.1:p.Met3550ArgfsTer3