Canonical Allele Identifier: CA1099241883
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs1783910507
gnomAD v3: 7-21881134-CAAAA-C
gnomAD v4: 7-21881134-CAAAA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21881137_21881140del , CM000669.2:g.21881137_21881140del GRCh38
NC_000007.13:g.21920755_21920758del , CM000669.1:g.21920755_21920758del GRCh37
NC_000007.12:g.21887280_21887283del NCBI36
NG_012886.2:g.342923_342926del

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.12387+244_12387+247del MANE Select ENSP00000475939.1:n.12387+244_12387+247del
ENST00000328843.10:c.12408+244_12408+247del ENSP00000330671.7:n.12408+244_12408+247del
ENST00000409508.7:c.12387+244_12387+247del ENSP00000475939.1:n.12387+244_12387+247del
ENST00000620169.4:c.12408+244_12408+247del ENSP00000481693.1:n.12408+244_12408+247del
NM_001277115.1:c.12387+244_12387+247del NP_001264044.1:n.12387+244_12387+247del
NM_001277115.2:c.12387+244_12387+247del MANE Select NP_001264044.1:n.12387+244_12387+247del
Search 100 bp 5'
Search 100 bp 3'