Canonical Allele Identifier: CA2673279623

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13901472-T-TTCTGCTTTG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13901474_13901482dup , CM000667.2:g.13901474_13901482dup	GRCh38
NC_000005.9:g.13901583_13901591dup , CM000667.1:g.13901583_13901591dup	GRCh37
NC_000005.8:g.13954583_13954591dup	NCBI36
NG_013081.1:g.48000_48008dup
NG_013081.2:g.48000_48008dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.1823_1831dup MANE Select	ENSP00000265104.4:p.Gln610_Lys611insThrLysGln
ENST00000681290.1:c.1778_1786dup	ENSP00000505288.1:p.Gln595_Lys596insThrLysGln
ENST00000265104.4:c.1823_1831dup	ENSP00000265104.4:p.Gln610_Lys611insThrLysGln
NM_001369.2:c.1823_1831dup	NP_001360.1:p.Gln610_Lys611insThrLysGln
XM_005248262.2:c.1778_1786dup	XP_005248319.1:p.Gln595_Lys596insThrLysGln
XM_011513990.1:c.1823_1831dup	XP_011512292.1:p.Gln610_Lys611insThrLysGln
XR_925598.1:n.2030_2038dup
XM_005248262.3:c.1931_1939dup	XP_005248319.2:p.Gln646_Lys647insThrLysGln
XM_017009177.1:c.1931_1939dup	XP_016864666.1:p.Gln646_Lys647insThrLysGln
XM_017009178.1:c.836_844dup	XP_016864667.1:p.Gln281_Lys282insThrLysGln
XM_017009179.2:c.836_844dup	XP_016864668.1:p.Gln281_Lys282insThrLysGln
XM_017009180.1:c.1931_1939dup	XP_016864669.1:p.Gln646_Lys647insThrLysGln
XM_017009181.1:c.1931_1939dup	XP_016864670.1:p.Gln646_Lys647insThrLysGln
XM_017009182.1:c.1931_1939dup	XP_016864671.1:p.Gln646_Lys647insThrLysGln
XM_017009183.1:c.1931_1939dup	XP_016864672.1:p.Gln646_Lys647insThrLysGln
XM_017009184.1:c.1931_1939dup	XP_016864673.1:p.Gln646_Lys647insThrLysGln
XM_017009187.1:c.1931_1939dup	XP_016864676.1:p.Gln646_Lys647insThrLysGln
XM_024454388.1:c.836_844dup	XP_024310156.1:p.Gln281_Lys282insThrLysGln
XM_024454389.1:c.425_433dup	XP_024310157.1:p.Gln144_Lys145insThrLysGln
XR_001742034.1:n.1948_1956dup
XR_001742035.1:n.1948_1956dup
NM_001369.3:c.1823_1831dup MANE Select	NP_001360.1:p.Gln610_Lys611insThrLysGln