Canonical Allele Identifier: CA8805183

Gene: DNAH17

Linked Data

• dbSNP Id: rs771171412
• ExAC: 17:76563101 GATC / G
• gnomAD v2: 17-76563101-GATC-G
• gnomAD v4: 17-78567019-GATC-G
• MyVariant Identifiers: chr17:g.76563102_76563104del (hg19) ; chr17:g.78567020_78567022del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78567022_78567024del , CM000679.2:g.78567022_78567024del	GRCh38
NC_000017.10:g.76563104_76563106del , CM000679.1:g.76563104_76563106del	GRCh37
NC_000017.9:g.74074699_74074701del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389840.7:c.1429_1431del MANE Select	ENSP00000374490.6:p.Asp477del
ENST00000389840.6:c.1429_1431del	ENSP00000374490.6:p.Asp477del
ENST00000585328.5:c.1429_1431del	ENSP00000465516.1:p.Asp477del
ENST00000589793.1:n.641_643del
NM_173628.3:c.1429_1431del	NP_775899.3:p.Asp477del
XM_011525416.1:c.1429_1431del	XP_011523718.1:p.Asp477del
XM_011525417.1:c.1429_1431del	XP_011523719.1:p.Asp477del
XR_934583.1:n.1590_1592del
XM_011525416.2:c.1429_1431del	XP_011523718.1:p.Asp477del
XM_024451013.1:c.1429_1431del	XP_024306781.1:p.Asp477del
XM_024451014.1:c.1429_1431del	XP_024306782.1:p.Asp477del
XR_002958080.1:n.1592_1594del
XR_002958081.1:n.1596_1598del
NM_173628.4:c.1429_1431del MANE Select	NP_775899.3:p.Asp477del