Canonical Allele Identifier: CA4179421
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 2042409
ClinVar RCV Id: RCV002917458
dbSNP Id: rs760757416
ExAC: 7:21639476 CA / C
gnomAD v2: 7-21639476-CA-C
gnomAD v4: 7-21599858-CA-C
MyVariant Identifiers: chr7:g.21639477del (hg19) chr7:g.21599859del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21599859del , CM000669.2:g.21599859del GRCh38
NC_000007.13:g.21639477del , CM000669.1:g.21639477del GRCh37
NC_000007.12:g.21606002del NCBI36
NG_012886.2:g.61645del

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.2740del MANE Select ENSP00000475939.1:p.Ile914LeufsTer10
ENST00000328843.10:c.2740del ENSP00000330671.7:p.Ile914LeufsTer10
ENST00000409508.7:c.2740del ENSP00000475939.1:p.Ile914LeufsTer10
ENST00000620169.4:c.2740del ENSP00000481693.1:p.Ile914LeufsTer10
NM_001277115.1:c.2740del NP_001264044.1:p.Ile914LeufsTer10
NM_001277115.2:c.2740del MANE Select NP_001264044.1:p.Ile914LeufsTer10
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