Canonical Allele Identifier: CA2592520550

Gene: DNAH5

Linked Data

• gnomAD v3: 5-13870678-T-TAACTTCACTCCAGACCCAGTCAATATTTCAGCTAATAGCATCCAACATGTAGAAATATTTCTATAATGAACAAA
• gnomAD v4: 5-13870678-T-TAACTTCACTCCAGACCCAGTCAATATTTCAGCTAATAGCATCCAACATGTAGAAATATTTCTATAATGAACAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13870679_13870752dup , CM000667.2:g.13870679_13870752dup	GRCh38
NC_000005.9:g.13870788_13870861dup , CM000667.1:g.13870788_13870861dup	GRCh37
NC_000005.8:g.13923788_13923861dup	NCBI36
NG_013081.1:g.78729_78802dup
NG_013081.2:g.78729_78802dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.3834+15_3834+88dup MANE Select	ENSP00000265104.4:n.3834+15_3834+88dup
ENST00000681290.1:c.3789+15_3789+88dup	ENSP00000505288.1:n.3789+15_3789+88dup
ENST00000265104.4:c.3834+15_3834+88dup	ENSP00000265104.4:n.3834+15_3834+88dup
NM_001369.2:c.3834+15_3834+88dup	NP_001360.1:n.3834+15_3834+88dup
XM_005248262.2:c.3789+15_3789+88dup	XP_005248319.1:n.3789+15_3789+88dup
XM_011513990.1:c.3834+15_3834+88dup	XP_011512292.1:n.3834+15_3834+88dup
XR_925598.1:n.4041+15_4041+88dup
XM_005248262.3:c.3942+15_3942+88dup	XP_005248319.2:n.3942+15_3942+88dup
XM_017009177.1:c.3942+15_3942+88dup	XP_016864666.1:n.3942+15_3942+88dup
XM_017009178.1:c.2847+15_2847+88dup	XP_016864667.1:n.2847+15_2847+88dup
XM_017009179.2:c.2847+15_2847+88dup	XP_016864668.1:n.2847+15_2847+88dup
XM_017009180.1:c.3942+15_3942+88dup	XP_016864669.1:n.3942+15_3942+88dup
XM_017009181.1:c.3942+15_3942+88dup	XP_016864670.1:n.3942+15_3942+88dup
XM_017009182.1:c.3942+15_3942+88dup	XP_016864671.1:n.3942+15_3942+88dup
XM_017009183.1:c.3942+15_3942+88dup	XP_016864672.1:n.3942+15_3942+88dup
XM_017009184.1:c.3942+15_3942+88dup	XP_016864673.1:n.3942+15_3942+88dup
XM_017009187.1:c.3942+15_3942+88dup	XP_016864676.1:n.3942+15_3942+88dup
XM_024454388.1:c.2847+15_2847+88dup	XP_024310156.1:n.2847+15_2847+88dup
XM_024454389.1:c.2436+15_2436+88dup	XP_024310157.1:n.2436+15_2436+88dup
XR_001742034.1:n.3959+15_3959+88dup
XR_001742035.1:n.3959+15_3959+88dup
NM_001369.3:c.3834+15_3834+88dup MANE Select	NP_001360.1:n.3834+15_3834+88dup