Canonical Allele Identifier: CA2673266366

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13701189-TTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13701193_13701194del , CM000667.2:g.13701193_13701194del	GRCh38
NC_000005.9:g.13701302_13701303del , CM000667.1:g.13701302_13701303del	GRCh37
NC_000005.8:g.13754302_13754303del	NCBI36
NG_013081.1:g.248290_248291del
NG_013081.2:g.248290_248291del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.824+93_824+94del
ENST00000265104.5:c.13491+93_13491+94del MANE Select	ENSP00000265104.4:n.13491+93_13491+94del
ENST00000681290.1:c.13446+93_13446+94del	ENSP00000505288.1:n.13446+93_13446+94del
ENST00000265104.4:c.13491+93_13491+94del	ENSP00000265104.4:n.13491+93_13491+94del
NM_001369.2:c.13491+93_13491+94del	NP_001360.1:n.13491+93_13491+94del
XM_005248262.2:c.13446+93_13446+94del	XP_005248319.1:n.13446+93_13446+94del
XM_005248262.3:c.13599+93_13599+94del	XP_005248319.2:n.13599+93_13599+94del
XM_017009177.1:c.13179+93_13179+94del	XP_016864666.1:n.13179+93_13179+94del
XM_017009178.1:c.12504+93_12504+94del	XP_016864667.1:n.12504+93_12504+94del
XM_017009179.2:c.12504+93_12504+94del	XP_016864668.1:n.12504+93_12504+94del
XM_017009185.1:c.8688+93_8688+94del	XP_016864674.1:n.8688+93_8688+94del
XM_017009186.1:c.8241+93_8241+94del	XP_016864675.1:n.8241+93_8241+94del
XM_017009188.1:c.7578+93_7578+94del	XP_016864677.1:n.7578+93_7578+94del
XM_024454388.1:c.12504+93_12504+94del	XP_024310156.1:n.12504+93_12504+94del
XM_024454389.1:c.12093+93_12093+94del	XP_024310157.1:n.12093+93_12093+94del
NM_001369.3:c.13491+93_13491+94del MANE Select	NP_001360.1:n.13491+93_13491+94del