Canonical Allele Identifier: CA1528395721

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13691733_13691734delinsAC , CM000667.2:g.13691733_13691734delinsAC	GRCh38
NC_000005.9:g.13691842_13691843delinsAC , CM000667.1:g.13691842_13691843delinsAC	GRCh37
NC_000005.8:g.13744842_13744843delinsAC	NCBI36
NG_013081.1:g.257747_257748delinsGT
NG_013081.2:g.257747_257748delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1458_1459delinsGT
ENST00000265104.5:c.*250_*251delinsGT MANE Select	ENSP00000265104.4:n.*250_*251delinsGT
ENST00000681290.1:c.*250_*251delinsGT	ENSP00000505288.1:n.*250_*251delinsGT
ENST00000265104.4:c.*250_*251delinsGT	ENSP00000265104.4:n.*250_*251delinsGT
NM_001369.2:c.*250_*251delinsGT	NP_001360.1:n.*250_*251delinsGT
XM_005248262.2:c.*250_*251delinsGT	XP_005248319.1:n.*250_*251delinsGT
XM_005248262.3:c.*250_*251delinsGT	XP_005248319.2:n.*250_*251delinsGT
XM_017009177.1:c.*250_*251delinsGT	XP_016864666.1:n.*250_*251delinsGT
XM_017009178.1:c.*250_*251delinsGT	XP_016864667.1:n.*250_*251delinsGT
XM_017009179.2:c.*250_*251delinsGT	XP_016864668.1:n.*250_*251delinsGT
XM_017009185.1:c.*250_*251delinsGT	XP_016864674.1:n.*250_*251delinsGT
XM_017009186.1:c.*250_*251delinsGT	XP_016864675.1:n.*250_*251delinsGT
XM_017009188.1:c.*250_*251delinsGT	XP_016864677.1:n.*250_*251delinsGT
XM_024454388.1:c.*250_*251delinsGT	XP_024310156.1:n.*250_*251delinsGT
XM_024454389.1:c.*250_*251delinsGT	XP_024310157.1:n.*250_*251delinsGT
NM_001369.3:c.*250_*251delinsGT MANE Select	NP_001360.1:n.*250_*251delinsGT