Canonical Allele Identifier: CA1073398281

Gene: DNAH5

Linked Data

• dbSNP Id: rs1776959855
• gnomAD v3: 5-13919031-GATGTGAGGGAAGTATTATGTAATTTTAA-G
• gnomAD v4: 5-13919031-GATGTGAGGGAAGTATTATGTAATTTTAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13919036_13919063del , CM000667.2:g.13919036_13919063del	GRCh38
NC_000005.9:g.13919145_13919172del , CM000667.1:g.13919145_13919172del	GRCh37
NC_000005.8:g.13972145_13972172del	NCBI36
NG_013081.1:g.30422_30449del
NG_013081.2:g.30422_30449del

Transcript Alleles

HGVS	Amino-acid change
ENST00000680213.2:n.1031+117_1031+144del
ENST00000682376.1:n.1136_1163del
ENST00000682586.1:n.1185_1212del
ENST00000683011.1:n.914+117_914+144del
ENST00000683967.1:n.1074+117_1074+144del
ENST00000684013.1:n.1074+117_1074+144del
ENST00000684099.1:n.1070+117_1070+144del
ENST00000265104.5:c.975+117_975+144del MANE Select	ENSP00000265104.4:n.975+117_975+144del
ENST00000680213.1:c.735+117_735+144del	ENSP00000506622.1:n.735+117_735+144del
ENST00000681290.1:c.930+117_930+144del	ENSP00000505288.1:n.930+117_930+144del
ENST00000265104.4:c.975+117_975+144del	ENSP00000265104.4:n.975+117_975+144del
ENST00000508040.1:n.1383+117_1383+144del
NM_001369.2:c.975+117_975+144del	NP_001360.1:n.975+117_975+144del
XM_005248262.2:c.930+117_930+144del	XP_005248319.1:n.930+117_930+144del
XM_011513990.1:c.975+117_975+144del	XP_011512292.1:n.975+117_975+144del
XR_925598.1:n.1182+117_1182+144del
XM_005248262.3:c.1083+117_1083+144del	XP_005248319.2:n.1083+117_1083+144del
XM_017009177.1:c.1083+117_1083+144del	XP_016864666.1:n.1083+117_1083+144del
XM_017009178.1:c.-13+117_-13+144del	XP_016864667.1:n.-13+117_-13+144del
XM_017009179.2:c.-99_-72del	XP_016864668.1:n.-99_-72del
XM_017009180.1:c.1083+117_1083+144del	XP_016864669.1:n.1083+117_1083+144del
XM_017009181.1:c.1083+117_1083+144del	XP_016864670.1:n.1083+117_1083+144del
XM_017009182.1:c.1083+117_1083+144del	XP_016864671.1:n.1083+117_1083+144del
XM_017009183.1:c.1083+117_1083+144del	XP_016864672.1:n.1083+117_1083+144del
XM_017009184.1:c.1083+117_1083+144del	XP_016864673.1:n.1083+117_1083+144del
XM_017009187.1:c.1083+117_1083+144del	XP_016864676.1:n.1083+117_1083+144del
XM_024454388.1:c.-1815_-1788del	XP_024310156.1:n.-1815_-1788del
XM_024454389.1:c.-985+117_-985+144del	XP_024310157.1:n.-985+117_-985+144del
XR_001742034.1:n.1100+117_1100+144del
XR_001742035.1:n.1100+117_1100+144del
NM_001369.3:c.975+117_975+144del MANE Select	NP_001360.1:n.975+117_975+144del