Canonical Allele Identifier: CA2673276412

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13870699-CAATATTTCAGCTAATAGCATCCAACATGTAGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13870708_13870739del , CM000667.2:g.13870708_13870739del	GRCh38
NC_000005.9:g.13870817_13870848del , CM000667.1:g.13870817_13870848del	GRCh37
NC_000005.8:g.13923817_13923848del	NCBI36
NG_013081.1:g.78750_78781del
NG_013081.2:g.78750_78781del

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.3834+36_3834+67del MANE Select	ENSP00000265104.4:n.3834+36_3834+67del
ENST00000681290.1:c.3789+36_3789+67del	ENSP00000505288.1:n.3789+36_3789+67del
ENST00000265104.4:c.3834+36_3834+67del	ENSP00000265104.4:n.3834+36_3834+67del
NM_001369.2:c.3834+36_3834+67del	NP_001360.1:n.3834+36_3834+67del
XM_005248262.2:c.3789+36_3789+67del	XP_005248319.1:n.3789+36_3789+67del
XM_011513990.1:c.3834+36_3834+67del	XP_011512292.1:n.3834+36_3834+67del
XR_925598.1:n.4041+36_4041+67del
XM_005248262.3:c.3942+36_3942+67del	XP_005248319.2:n.3942+36_3942+67del
XM_017009177.1:c.3942+36_3942+67del	XP_016864666.1:n.3942+36_3942+67del
XM_017009178.1:c.2847+36_2847+67del	XP_016864667.1:n.2847+36_2847+67del
XM_017009179.2:c.2847+36_2847+67del	XP_016864668.1:n.2847+36_2847+67del
XM_017009180.1:c.3942+36_3942+67del	XP_016864669.1:n.3942+36_3942+67del
XM_017009181.1:c.3942+36_3942+67del	XP_016864670.1:n.3942+36_3942+67del
XM_017009182.1:c.3942+36_3942+67del	XP_016864671.1:n.3942+36_3942+67del
XM_017009183.1:c.3942+36_3942+67del	XP_016864672.1:n.3942+36_3942+67del
XM_017009184.1:c.3942+36_3942+67del	XP_016864673.1:n.3942+36_3942+67del
XM_017009187.1:c.3942+36_3942+67del	XP_016864676.1:n.3942+36_3942+67del
XM_024454388.1:c.2847+36_2847+67del	XP_024310156.1:n.2847+36_2847+67del
XM_024454389.1:c.2436+36_2436+67del	XP_024310157.1:n.2436+36_2436+67del
XR_001742034.1:n.3959+36_3959+67del
XR_001742035.1:n.3959+36_3959+67del
NM_001369.3:c.3834+36_3834+67del MANE Select	NP_001360.1:n.3834+36_3834+67del