Canonical Allele Identifier: CA3204536

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 402730
• ClinVar RCV Id: RCV000455857 ; RCV000456173 ; RCV001833573
• dbSNP Id: rs71600031
• ExAC: 5:13886244 CAAAA / C
• gnomAD v2: 5-13886244-CAAAA-C
• gnomAD v3: 5-13886135-CAAAA-C
• gnomAD v4: 5-13886135-CAAAA-C
• MyVariant Identifiers: chr5:g.13886246_13886249del (hg19) ; chr5:g.13886245_13886248del (hg19) ; chr5:g.13886137_13886140del (hg38) ; chr5:g.13886136_13886139del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13886151_13886154del , CM000667.2:g.13886151_13886154del	GRCh38
NC_000005.9:g.13886260_13886263del , CM000667.1:g.13886260_13886263del	GRCh37
NC_000005.8:g.13939260_13939263del	NCBI36
NG_013081.1:g.63342_63345del
NG_013081.2:g.63342_63345del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.2578-10_2578-7del MANE Select	ENSP00000265104.4:n.2578-10_2578-7del
ENST00000681290.1:c.2533-10_2533-7del	ENSP00000505288.1:n.2533-10_2533-7del
ENST00000265104.4:c.2578-10_2578-7del	ENSP00000265104.4:n.2578-10_2578-7del
NM_001369.2:c.2578-10_2578-7del	NP_001360.1:n.2578-10_2578-7del
XM_005248262.2:c.2533-10_2533-7del	XP_005248319.1:n.2533-10_2533-7del
XM_011513990.1:c.2578-10_2578-7del	XP_011512292.1:n.2578-10_2578-7del
XR_925598.1:n.2785-10_2785-7del
XM_005248262.3:c.2686-10_2686-7del	XP_005248319.2:n.2686-10_2686-7del
XM_017009177.1:c.2686-10_2686-7del	XP_016864666.1:n.2686-10_2686-7del
XM_017009178.1:c.1591-10_1591-7del	XP_016864667.1:n.1591-10_1591-7del
XM_017009179.2:c.1591-10_1591-7del	XP_016864668.1:n.1591-10_1591-7del
XM_017009180.1:c.2686-10_2686-7del	XP_016864669.1:n.2686-10_2686-7del
XM_017009181.1:c.2686-10_2686-7del	XP_016864670.1:n.2686-10_2686-7del
XM_017009182.1:c.2686-10_2686-7del	XP_016864671.1:n.2686-10_2686-7del
XM_017009183.1:c.2686-10_2686-7del	XP_016864672.1:n.2686-10_2686-7del
XM_017009184.1:c.2686-10_2686-7del	XP_016864673.1:n.2686-10_2686-7del
XM_017009187.1:c.2686-10_2686-7del	XP_016864676.1:n.2686-10_2686-7del
XM_024454388.1:c.1591-10_1591-7del	XP_024310156.1:n.1591-10_1591-7del
XM_024454389.1:c.1180-10_1180-7del	XP_024310157.1:n.1180-10_1180-7del
XR_001742034.1:n.2703-10_2703-7del
XR_001742035.1:n.2703-10_2703-7del
NM_001369.3:c.2578-10_2578-7del MANE Select	NP_001360.1:n.2578-10_2578-7del