Canonical Allele Identifier: CA2673266334

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13701138-GGGAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13701139_13701142del , CM000667.2:g.13701139_13701142del	GRCh38
NC_000005.9:g.13701248_13701251del , CM000667.1:g.13701248_13701251del	GRCh37
NC_000005.8:g.13754248_13754251del	NCBI36
NG_013081.1:g.248339_248342del
NG_013081.2:g.248339_248342del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.824+142_824+145del
ENST00000265104.5:c.13491+142_13491+145del MANE Select	ENSP00000265104.4:n.13491+142_13491+145del
ENST00000681290.1:c.13446+142_13446+145del	ENSP00000505288.1:n.13446+142_13446+145del
ENST00000265104.4:c.13491+142_13491+145del	ENSP00000265104.4:n.13491+142_13491+145del
NM_001369.2:c.13491+142_13491+145del	NP_001360.1:n.13491+142_13491+145del
XM_005248262.2:c.13446+142_13446+145del	XP_005248319.1:n.13446+142_13446+145del
XM_005248262.3:c.13599+142_13599+145del	XP_005248319.2:n.13599+142_13599+145del
XM_017009177.1:c.13179+142_13179+145del	XP_016864666.1:n.13179+142_13179+145del
XM_017009178.1:c.12504+142_12504+145del	XP_016864667.1:n.12504+142_12504+145del
XM_017009179.2:c.12504+142_12504+145del	XP_016864668.1:n.12504+142_12504+145del
XM_017009185.1:c.8688+142_8688+145del	XP_016864674.1:n.8688+142_8688+145del
XM_017009186.1:c.8241+142_8241+145del	XP_016864675.1:n.8241+142_8241+145del
XM_017009188.1:c.7578+142_7578+145del	XP_016864677.1:n.7578+142_7578+145del
XM_024454388.1:c.12504+142_12504+145del	XP_024310156.1:n.12504+142_12504+145del
XM_024454389.1:c.12093+142_12093+145del	XP_024310157.1:n.12093+142_12093+145del
NM_001369.3:c.13491+142_13491+145del MANE Select	NP_001360.1:n.13491+142_13491+145del