Canonical Allele Identifier: CA1528395829

Gene: DNAH5

Linked Data

• dbSNP Id: rs1740749375
• gnomAD v4: 5-13691980-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13691981_13691982del , CM000667.2:g.13691981_13691982del	GRCh38
NC_000005.9:g.13692090_13692091del , CM000667.1:g.13692090_13692091del	GRCh37
NC_000005.8:g.13745090_13745091del	NCBI36
NG_013081.1:g.257499_257500del
NG_013081.2:g.257499_257500del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1210_1211del
ENST00000265104.5:c.*2_*3del MANE Select	ENSP00000265104.4:n.*2_*3del
ENST00000681290.1:c.*2_*3del	ENSP00000505288.1:n.*2_*3del
ENST00000265104.4:c.*2_*3del	ENSP00000265104.4:n.*2_*3del
NM_001369.2:c.*2_*3del	NP_001360.1:n.*2_*3del
XM_005248262.2:c.*2_*3del	XP_005248319.1:n.*2_*3del
XM_005248262.3:c.*2_*3del	XP_005248319.2:n.*2_*3del
XM_017009177.1:c.*2_*3del	XP_016864666.1:n.*2_*3del
XM_017009178.1:c.*2_*3del	XP_016864667.1:n.*2_*3del
XM_017009179.2:c.*2_*3del	XP_016864668.1:n.*2_*3del
XM_017009185.1:c.*2_*3del	XP_016864674.1:n.*2_*3del
XM_017009186.1:c.*2_*3del	XP_016864675.1:n.*2_*3del
XM_017009188.1:c.*2_*3del	XP_016864677.1:n.*2_*3del
XM_024454388.1:c.*2_*3del	XP_024310156.1:n.*2_*3del
XM_024454389.1:c.*2_*3del	XP_024310157.1:n.*2_*3del
NM_001369.3:c.*2_*3del MANE Select	NP_001360.1:n.*2_*3del