Canonical Allele Identifier: CA4178616

Gene: DNAH11

Linked Data

• ClinVar Variation Id: 454643
• ClinVar RCV Id: RCV000544992
• dbSNP Id: rs754826899
• ExAC: 7:21582968 CGAG / C
• gnomAD v2: 7-21582968-CGAG-C
• gnomAD v3: 7-21543350-CGAG-C
• gnomAD v4: 7-21543350-CGAG-C
• MyVariant Identifiers: chr7:g.21582981_21582983del (hg19) ; chr7:g.21582969_21582971del (hg19) ; chr7:g.21543363_21543365del (hg38) ; chr7:g.21543351_21543353del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21543363_21543365del , CM000669.2:g.21543363_21543365del	GRCh38
NC_000007.13:g.21582981_21582983del , CM000669.1:g.21582981_21582983del	GRCh37
NC_000007.12:g.21549506_21549508del	NCBI36
NG_012886.2:g.5149_5151del

Transcript Alleles

HGVS	Amino-acid change
ENST00000409508.8:c.118_120del MANE Select	ENSP00000475939.1:p.Glu40del
ENST00000328843.10:c.118_120del	ENSP00000330671.7:p.Glu40del
ENST00000409508.7:c.118_120del	ENSP00000475939.1:p.Glu40del
ENST00000620169.4:c.118_120del	ENSP00000481693.1:p.Glu40del
NM_001277115.1:c.118_120del	NP_001264044.1:p.Glu40del
NM_001277115.2:c.118_120del MANE Select	NP_001264044.1:p.Glu40del