Canonical Allele Identifier: CA1693666712
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs1789817023
gnomAD v4: 7-21816821-CTATT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21816823_21816826del , CM000669.2:g.21816823_21816826del GRCh38
NC_000007.13:g.21856441_21856444del , CM000669.1:g.21856441_21856444del GRCh37
NC_000007.12:g.21822966_21822969del NCBI36
NG_012886.2:g.278609_278612del

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.10568+121_10568+124del MANE Select ENSP00000475939.1:n.10568+121_10568+124del
ENST00000328843.10:c.10589+121_10589+124del ENSP00000330671.7:n.10589+121_10589+124del
ENST00000409508.7:c.10568+121_10568+124del ENSP00000475939.1:n.10568+121_10568+124del
ENST00000620169.4:c.10589+121_10589+124del ENSP00000481693.1:n.10589+121_10589+124del
NM_001277115.1:c.10568+121_10568+124del NP_001264044.1:n.10568+121_10568+124del
NM_001277115.2:c.10568+121_10568+124del MANE Select NP_001264044.1:n.10568+121_10568+124del
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