Canonical Allele Identifier: CA4179397
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs765055614
ExAC: 7:21639368 TG / T
gnomAD v2: 7-21639368-TG-T
gnomAD v3: 7-21599750-TG-T
gnomAD v4: 7-21599750-TG-T
MyVariant Identifiers: chr7:g.21639369del (hg19) chr7:g.21599751del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21599751del , CM000669.2:g.21599751del GRCh38
NC_000007.13:g.21639369del , CM000669.1:g.21639369del GRCh37
NC_000007.12:g.21605894del NCBI36
NG_012886.2:g.61537del

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.2668-36del MANE Select ENSP00000475939.1:n.2668-36del
ENST00000328843.10:c.2668-36del ENSP00000330671.7:n.2668-36del
ENST00000409508.7:c.2668-36del ENSP00000475939.1:n.2668-36del
ENST00000620169.4:c.2668-36del ENSP00000481693.1:n.2668-36del
NM_001277115.1:c.2668-36del NP_001264044.1:n.2668-36del
NM_001277115.2:c.2668-36del MANE Select NP_001264044.1:n.2668-36del
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