Canonical Allele Identifier: CA2681992295
Gene: DNAH11 HGNC NCBI

Linked Data

gnomAD v4: 7-21880747-C-CT
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.12247dup MANE Select ENSP00000475939.1:p.Ser4083PhefsTer27
ENST00000328843.10:c.12268dup ENSP00000330671.7:p.Ser4090PhefsTer27
ENST00000409508.7:c.12247dup ENSP00000475939.1:p.Ser4083PhefsTer27
ENST00000620169.4:c.12268dup ENSP00000481693.1:p.Ser4090PhefsTer27
NM_001277115.1:c.12247dup NP_001264044.1:p.Ser4083PhefsTer27
NM_001277115.2:c.12247dup MANE Select NP_001264044.1:p.Ser4083PhefsTer27
Search 100 bp 5'
Search 100 bp 3'