Canonical Allele Identifier: CA2681992294
Gene: DNAH11 HGNC NCBI

Linked Data

gnomAD v4: 7-21880732-GA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21880733del , CM000669.2:g.21880733del GRCh38
NC_000007.13:g.21920351del , CM000669.1:g.21920351del GRCh37
NC_000007.12:g.21886876del NCBI36
NG_012886.2:g.342519del

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.12227del MANE Select ENSP00000475939.1:p.Glu4076GlyfsTer20
ENST00000328843.10:c.12248del ENSP00000330671.7:p.Glu4083GlyfsTer20
ENST00000409508.7:c.12227del ENSP00000475939.1:p.Glu4076GlyfsTer20
ENST00000620169.4:c.12248del ENSP00000481693.1:p.Glu4083GlyfsTer20
NM_001277115.1:c.12227del NP_001264044.1:p.Glu4076GlyfsTer20
NM_001277115.2:c.12227del MANE Select NP_001264044.1:p.Glu4076GlyfsTer20
Search 100 bp 5'
Search 100 bp 3'