Canonical Allele Identifier: CA1528399841

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13701205_13701206delinsAG , CM000667.2:g.13701205_13701206delinsAG	GRCh38
NC_000005.9:g.13701314_13701315delinsAG , CM000667.1:g.13701314_13701315delinsAG	GRCh37
NC_000005.8:g.13754314_13754315delinsAG	NCBI36
NG_013081.1:g.248275_248276delinsCT
NG_013081.2:g.248275_248276delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.824+78_824+79delinsCT
ENST00000265104.5:c.13491+78_13491+79delinsCT MANE Select	ENSP00000265104.4:n.13491+78_13491+79delinsCT
ENST00000681290.1:c.13446+78_13446+79delinsCT	ENSP00000505288.1:n.13446+78_13446+79delinsCT
ENST00000265104.4:c.13491+78_13491+79delinsCT	ENSP00000265104.4:n.13491+78_13491+79delinsCT
NM_001369.2:c.13491+78_13491+79delinsCT	NP_001360.1:n.13491+78_13491+79delinsCT
XM_005248262.2:c.13446+78_13446+79delinsCT	XP_005248319.1:n.13446+78_13446+79delinsCT
XM_005248262.3:c.13599+78_13599+79delinsCT	XP_005248319.2:n.13599+78_13599+79delinsCT
XM_017009177.1:c.13179+78_13179+79delinsCT	XP_016864666.1:n.13179+78_13179+79delinsCT
XM_017009178.1:c.12504+78_12504+79delinsCT	XP_016864667.1:n.12504+78_12504+79delinsCT
XM_017009179.2:c.12504+78_12504+79delinsCT	XP_016864668.1:n.12504+78_12504+79delinsCT
XM_017009185.1:c.8688+78_8688+79delinsCT	XP_016864674.1:n.8688+78_8688+79delinsCT
XM_017009186.1:c.8241+78_8241+79delinsCT	XP_016864675.1:n.8241+78_8241+79delinsCT
XM_017009188.1:c.7578+78_7578+79delinsCT	XP_016864677.1:n.7578+78_7578+79delinsCT
XM_024454388.1:c.12504+78_12504+79delinsCT	XP_024310156.1:n.12504+78_12504+79delinsCT
XM_024454389.1:c.12093+78_12093+79delinsCT	XP_024310157.1:n.12093+78_12093+79delinsCT
NM_001369.3:c.13491+78_13491+79delinsCT MANE Select	NP_001360.1:n.13491+78_13491+79delinsCT