Canonical Allele Identifier: CA917961046
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs1583806885
gnomAD v3: 7-21880747-CT-C
gnomAD v4: 7-21880747-CT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21880753del , CM000669.2:g.21880753del GRCh38
NC_000007.13:g.21920371del , CM000669.1:g.21920371del GRCh37
NC_000007.12:g.21886896del NCBI36
NG_012886.2:g.342539del

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.12247del MANE Select ENSP00000475939.1:p.Ser4083LeufsTer13
ENST00000328843.10:c.12268del ENSP00000330671.7:p.Ser4090LeufsTer13
ENST00000409508.7:c.12247del ENSP00000475939.1:p.Ser4083LeufsTer13
ENST00000620169.4:c.12268del ENSP00000481693.1:p.Ser4090LeufsTer13
NM_001277115.1:c.12247del NP_001264044.1:p.Ser4083LeufsTer13
NM_001277115.2:c.12247del MANE Select NP_001264044.1:p.Ser4083LeufsTer13
Search 100 bp 5'
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