Canonical Allele Identifier: CA2832550797
Gene: DNAH11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21748642dup , CM000669.2:g.21748642dup GRCh38
NC_000007.13:g.21788260dup , CM000669.1:g.21788260dup GRCh37
NC_000007.12:g.21754785dup NCBI36
NG_012886.2:g.210428dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.8573dup MANE Select ENSP00000475939.1:p.Ser2859GlnfsTer17
ENST00000328843.10:c.8594dup ENSP00000330671.7:p.Ser2866GlnfsTer17
ENST00000409508.7:c.8573dup ENSP00000475939.1:p.Ser2859GlnfsTer17
ENST00000620169.4:c.8594dup ENSP00000481693.1:p.Ser2866GlnfsTer17
NM_001277115.1:c.8573dup NP_001264044.1:p.Ser2859GlnfsTer17
NM_001277115.2:c.8573dup MANE Select NP_001264044.1:p.Ser2859GlnfsTer17