Canonical Allele Identifier: CA1099227497
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs1785921349
gnomAD v3: 7-21619156-ACACAG-A
gnomAD v4: 7-21619156-ACACAG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21619157_21619161del , CM000669.2:g.21619157_21619161del GRCh38
NC_000007.13:g.21658775_21658779del , CM000669.1:g.21658775_21658779del GRCh37
NC_000007.12:g.21625300_21625304del NCBI36
NG_012886.2:g.80943_80947del

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.4312_4316del MANE Select ENSP00000475939.1:p.His1438SerfsTer4
ENST00000328843.10:c.4327_4331del ENSP00000330671.7:p.His1443SerfsTer4
ENST00000409508.7:c.4312_4316del ENSP00000475939.1:p.His1438SerfsTer4
ENST00000465593.1:n.338_342del
ENST00000620169.4:c.4327_4331del ENSP00000481693.1:p.His1443SerfsTer4
NM_001277115.1:c.4312_4316del NP_001264044.1:p.His1438SerfsTer4
NM_001277115.2:c.4312_4316del MANE Select NP_001264044.1:p.His1438SerfsTer4
Search 100 bp 5'
Search 100 bp 3'