Canonical Allele Identifier: CA1693579277
Gene: DNAH11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21599958_21599959delinsCA , CM000669.2:g.21599958_21599959delinsCA GRCh38
NC_000007.13:g.21639576_21639577delinsCA , CM000669.1:g.21639576_21639577delinsCA GRCh37
NC_000007.12:g.21606101_21606102delinsCA NCBI36
NG_012886.2:g.61744_61745delinsCA

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.2839_2840delinsCA MANE Select ENSP00000475939.1:p.Gln947=
ENST00000328843.10:c.2839_2840delinsCA ENSP00000330671.7:p.Gln947=
ENST00000409508.7:c.2839_2840delinsCA ENSP00000475939.1:p.Gln947=
ENST00000620169.4:c.2839_2840delinsCA ENSP00000481693.1:p.Gln947=
NM_001277115.1:c.2839_2840delinsCA NP_001264044.1:p.Gln947=
NM_001277115.2:c.2839_2840delinsCA MANE Select NP_001264044.1:p.Gln947=