Canonical Allele Identifier: CA1528395809

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13691934_13691935delinsAT , CM000667.2:g.13691934_13691935delinsAT	GRCh38
NC_000005.9:g.13692043_13692044delinsAT , CM000667.1:g.13692043_13692044delinsAT	GRCh37
NC_000005.8:g.13745043_13745044delinsAT	NCBI36
NG_013081.1:g.257546_257547delinsAT
NG_013081.2:g.257546_257547delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1257_1258delinsAT
ENST00000265104.5:c.*49_*50delinsAT MANE Select	ENSP00000265104.4:n.*49_*50delinsAT
ENST00000681290.1:c.*49_*50delinsAT	ENSP00000505288.1:n.*49_*50delinsAT
ENST00000265104.4:c.*49_*50delinsAT	ENSP00000265104.4:n.*49_*50delinsAT
NM_001369.2:c.*49_*50delinsAT	NP_001360.1:n.*49_*50delinsAT
XM_005248262.2:c.*49_*50delinsAT	XP_005248319.1:n.*49_*50delinsAT
XM_005248262.3:c.*49_*50delinsAT	XP_005248319.2:n.*49_*50delinsAT
XM_017009177.1:c.*49_*50delinsAT	XP_016864666.1:n.*49_*50delinsAT
XM_017009178.1:c.*49_*50delinsAT	XP_016864667.1:n.*49_*50delinsAT
XM_017009179.2:c.*49_*50delinsAT	XP_016864668.1:n.*49_*50delinsAT
XM_017009185.1:c.*49_*50delinsAT	XP_016864674.1:n.*49_*50delinsAT
XM_017009186.1:c.*49_*50delinsAT	XP_016864675.1:n.*49_*50delinsAT
XM_017009188.1:c.*49_*50delinsAT	XP_016864677.1:n.*49_*50delinsAT
XM_024454388.1:c.*49_*50delinsAT	XP_024310156.1:n.*49_*50delinsAT
XM_024454389.1:c.*49_*50delinsAT	XP_024310157.1:n.*49_*50delinsAT
NM_001369.3:c.*49_*50delinsAT MANE Select	NP_001360.1:n.*49_*50delinsAT