Canonical Allele Identifier: CA628015166

Gene: DNAH17

Linked Data

• ClinVar Variation Id: 1220815
• ClinVar RCV Id: RCV001595377
• dbSNP Id: rs71160294
• gnomAD v2: 17-76421837-CTTTTTTT-C
• gnomAD v3: 17-78425756-CTTTTTTT-C
• gnomAD v4: 17-78425756-CTTTTTTT-C
• MyVariant Identifiers: chr17:g.76421844_76421850del (hg19) ; chr17:g.76421838_76421844del (hg19) ; chr17:g.78425763_78425769del (hg38) ; chr17:g.78425757_78425763del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78425777_78425783del , CM000679.2:g.78425777_78425783del	GRCh38
NC_000017.10:g.76421858_76421864del , CM000679.1:g.76421858_76421864del	GRCh37
NC_000017.9:g.73933453_73933459del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389840.7:c.12916-192_12916-186del MANE Select	ENSP00000374490.6:n.12916-192_12916-186del
ENST00000389840.6:c.12916-192_12916-186del	ENSP00000374490.6:n.12916-192_12916-186del
ENST00000585328.5:c.12901-192_12901-186del	ENSP00000465516.1:n.12901-192_12901-186del
ENST00000586052.5:n.6077-192_6077-186del
ENST00000590227.5:n.2590-192_2590-186del
ENST00000591369.5:c.4518-172_4518-166del
ENST00000591647.1:n.265-192_265-186del
NM_173628.3:c.12916-192_12916-186del	NP_775899.3:n.12916-192_12916-186del
XM_011525416.1:c.12928-192_12928-186del	XP_011523718.1:n.12928-192_12928-186del
XM_011525418.1:c.6295-192_6295-186del	XP_011523720.1:n.6295-192_6295-186del
XM_011525416.2:c.12928-192_12928-186del	XP_011523718.1:n.12928-192_12928-186del
XM_017025261.2:c.6262-192_6262-186del	XP_016880750.1:n.6262-192_6262-186del
XM_024451013.1:c.12784-192_12784-186del	XP_024306781.1:n.12784-192_12784-186del
NM_173628.4:c.12916-192_12916-186del MANE Select	NP_775899.3:n.12916-192_12916-186del