Canonical Allele Identifier: CA113937469

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1260252
• ClinVar RCV Id: RCV001659530
• dbSNP Id: rs5866069
• gnomAD v2: 5-13829451-T-TA
• gnomAD v3: 5-13829342-T-TA
• gnomAD v4: 5-13829342-T-TA
• MyVariant Identifiers: chr5:g.13829451_13829452insA (hg19) ; chr5:g.13829342_13829343insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13829348dup , CM000667.2:g.13829348dup	GRCh38
NC_000005.9:g.13829457dup , CM000667.1:g.13829457dup	GRCh37
NC_000005.8:g.13882457dup	NCBI36
NG_013081.1:g.120138dup
NG_013081.2:g.120138dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683090.1:n.1375+167dup
ENST00000265104.5:c.6444+167dup MANE Select	ENSP00000265104.4:n.6444+167dup
ENST00000681290.1:c.6399+167dup	ENSP00000505288.1:n.6399+167dup
ENST00000265104.4:c.6444+167dup	ENSP00000265104.4:n.6444+167dup
NM_001369.2:c.6444+167dup	NP_001360.1:n.6444+167dup
XM_005248262.2:c.6399+167dup	XP_005248319.1:n.6399+167dup
XM_011513990.1:c.6444+167dup	XP_011512292.1:n.6444+167dup
XR_925598.1:n.6651+167dup
XM_005248262.3:c.6552+167dup	XP_005248319.2:n.6552+167dup
XM_017009177.1:c.6552+167dup	XP_016864666.1:n.6552+167dup
XM_017009178.1:c.5457+167dup	XP_016864667.1:n.5457+167dup
XM_017009179.2:c.5457+167dup	XP_016864668.1:n.5457+167dup
XM_017009180.1:c.6552+167dup	XP_016864669.1:n.6552+167dup
XM_017009181.1:c.6552+167dup	XP_016864670.1:n.6552+167dup
XM_017009182.1:c.6552+167dup	XP_016864671.1:n.6552+167dup
XM_017009183.1:c.6552+167dup	XP_016864672.1:n.6552+167dup
XM_017009184.1:c.6552+167dup	XP_016864673.1:n.6552+167dup
XM_017009185.1:c.1641+167dup	XP_016864674.1:n.1641+167dup
XM_017009186.1:c.1194+167dup	XP_016864675.1:n.1194+167dup
XM_017009187.1:c.6552+167dup	XP_016864676.1:n.6552+167dup
XM_017009188.1:c.531+167dup	XP_016864677.1:n.531+167dup
XM_024454388.1:c.5457+167dup	XP_024310156.1:n.5457+167dup
XM_024454389.1:c.5046+167dup	XP_024310157.1:n.5046+167dup
XR_001742034.1:n.6569+167dup
XR_001742035.1:n.6569+167dup
NM_001369.3:c.6444+167dup MANE Select	NP_001360.1:n.6444+167dup