Canonical Allele Identifier: CA1528476210

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13866215_13866216delinsAT , CM000667.2:g.13866215_13866216delinsAT	GRCh38
NC_000005.9:g.13866324_13866325delinsAT , CM000667.1:g.13866324_13866325delinsAT	GRCh37
NC_000005.8:g.13919324_13919325delinsAT	NCBI36
NG_013081.1:g.83265_83266delinsAT
NG_013081.2:g.83265_83266delinsAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.4116+4_4116+5delinsAT MANE Select	ENSP00000265104.4:n.4116+4_4116+5delinsAT...
ENST00000681290.1:c.4071+4_4071+5delinsAT	ENSP00000505288.1:n.4071+4_4071+5delinsAT...
ENST00000265104.4:c.4116+4_4116+5delinsAT	ENSP00000265104.4:n.4116+4_4116+5delinsAT...
NM_001369.2:c.4116+4_4116+5delinsAT	NP_001360.1:n.4116+4_4116+5delinsAT
XM_005248262.2:c.4071+4_4071+5delinsAT	XP_005248319.1:n.4071+4_4071+5delinsAT
XM_011513990.1:c.4116+4_4116+5delinsAT	XP_011512292.1:n.4116+4_4116+5delinsAT
XR_925598.1:n.4323+4_4323+5delinsAT
XM_005248262.3:c.4224+4_4224+5delinsAT	XP_005248319.2:n.4224+4_4224+5delinsAT
XM_017009177.1:c.4224+4_4224+5delinsAT	XP_016864666.1:n.4224+4_4224+5delinsAT
XM_017009178.1:c.3129+4_3129+5delinsAT	XP_016864667.1:n.3129+4_3129+5delinsAT
XM_017009179.2:c.3129+4_3129+5delinsAT	XP_016864668.1:n.3129+4_3129+5delinsAT
XM_017009180.1:c.4224+4_4224+5delinsAT	XP_016864669.1:n.4224+4_4224+5delinsAT
XM_017009181.1:c.4224+4_4224+5delinsAT	XP_016864670.1:n.4224+4_4224+5delinsAT
XM_017009182.1:c.4224+4_4224+5delinsAT	XP_016864671.1:n.4224+4_4224+5delinsAT
XM_017009183.1:c.4224+4_4224+5delinsAT	XP_016864672.1:n.4224+4_4224+5delinsAT
XM_017009184.1:c.4224+4_4224+5delinsAT	XP_016864673.1:n.4224+4_4224+5delinsAT
XM_017009187.1:c.4224+4_4224+5delinsAT	XP_016864676.1:n.4224+4_4224+5delinsAT
XM_024454388.1:c.3129+4_3129+5delinsAT	XP_024310156.1:n.3129+4_3129+5delinsAT
XM_024454389.1:c.2718+4_2718+5delinsAT	XP_024310157.1:n.2718+4_2718+5delinsAT
XR_001742034.1:n.4241+4_4241+5delinsAT
XR_001742035.1:n.4241+4_4241+5delinsAT
NM_001369.3:c.4116+4_4116+5delinsAT MANE Select	NP_001360.1:n.4116+4_4116+5delinsAT