Canonical Allele Identifier: CA2578865524
Gene: DNAH11 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21599892_21599893insCTATAAGTCT , CM000669.2:g.21599892_21599893insCTATAAGTCT GRCh38
NC_000007.13:g.21639510_21639511insCTATAAGTCT , CM000669.1:g.21639510_21639511insCTATAAGTCT GRCh37
NC_000007.12:g.21606035_21606036insCTATAAGTCT NCBI36
NG_012886.2:g.61678_61679insCTATAAGTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.2773_2774insCTATAAGTCT MANE Select ENSP00000475939.1:p.His925ProfsTer33
ENST00000328843.10:c.2773_2774insCTATAAGTCT ENSP00000330671.7:p.His925ProfsTer33
ENST00000409508.7:c.2773_2774insCTATAAGTCT ENSP00000475939.1:p.His925ProfsTer33
ENST00000620169.4:c.2773_2774insCTATAAGTCT ENSP00000481693.1:p.His925ProfsTer33
NM_001277115.1:c.2773_2774insCTATAAGTCT NP_001264044.1:p.His925ProfsTer33
NM_001277115.2:c.2773_2774insCTATAAGTCT MANE Select NP_001264044.1:p.His925ProfsTer33
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