Canonical Allele Identifier: CA1693540063

Gene: DNAH11

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21559208_21559220delinsCTAGCAAACCCAT , CM000669.2:g.21559208_21559220delinsCTAGCAAACCCAT	GRCh38
NC_000007.13:g.21598826_21598838delinsCTAGCAAACCCAT , CM000669.1:g.21598826_21598838delinsCTAGCAAACCCAT	GRCh37
NC_000007.12:g.21565351_21565363delinsCTAGCAAACCCAT	NCBI36
NG_012886.2:g.20994_21006delinsCTAGCAAACCCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.692+210_692+222delinsCTAGCAAACCCAT MANE Select	ENSP00000475939.1:n.692+210_692+222delinsCTAGCAAACCCAT
ENST00000328843.10:c.692+210_692+222delinsCTAGCAAACCCAT	ENSP00000330671.7:n.692+210_692+222delinsCTAGCAAACCCAT
ENST00000409508.7:c.692+210_692+222delinsCTAGCAAACCCAT	ENSP00000475939.1:n.692+210_692+222delinsCTAGCAAACCCAT
ENST00000620169.4:c.692+210_692+222delinsCTAGCAAACCCAT	ENSP00000481693.1:n.692+210_692+222delinsCTAGCAAACCCAT
NM_001277115.1:c.692+210_692+222delinsCTAGCAAACCCAT	NP_001264044.1:n.692+210_692+222delinsCTAGCAAACCCAT
NM_001277115.2:c.692+210_692+222delinsCTAGCAAACCCAT MANE Select	NP_001264044.1:n.692+210_692+222delinsCTAGCAAACCCAT