Canonical Allele Identifier: CA16612218
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 410848
ClinVar RCV Id: RCV000463702
dbSNP Id: rs1060503060
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21748648_21748651delinsACAG , CM000669.2:g.21748648_21748651delinsACAG GRCh38
NC_000007.13:g.21788266_21788269delinsACAG , CM000669.1:g.21788266_21788269delinsACAG GRCh37
NC_000007.12:g.21754791_21754794delinsACAG NCBI36
NG_012886.2:g.210434_210437delinsACAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.8579_8582delinsACAG MANE Select ENSP00000475939.1:p.Gly2860_Lys2861delinsAspArg
ENST00000328843.10:c.8600_8603delinsACAG ENSP00000330671.7:p.Gly2867_Lys2868delinsAspArg
ENST00000409508.7:c.8579_8582delinsACAG ENSP00000475939.1:p.Gly2860_Lys2861delinsAspArg
ENST00000620169.4:c.8600_8603delinsACAG ENSP00000481693.1:p.Gly2867_Lys2868delinsAspArg
NM_001277115.1:c.8579_8582delinsACAG NP_001264044.1:p.Gly2860_Lys2861delinsAspArg
NM_001277115.2:c.8579_8582delinsACAG MANE Select NP_001264044.1:p.Gly2860_Lys2861delinsAspArg
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