Canonical Allele Identifier: CA1693713213

Gene: DNAH11

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21881256_21881270delinsCATAACACTGCATTA , CM000669.2:g.21881256_21881270delinsCATAACACTGCATTA	GRCh38
NC_000007.13:g.21920874_21920888delinsCATAACACTGCATTA , CM000669.1:g.21920874_21920888delinsCATAACACTGCATTA	GRCh37
NC_000007.12:g.21887399_21887413delinsCATAACACTGCATTA	NCBI36
NG_012886.2:g.343042_343056delinsCATAACACTGCATTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.12387+363_12387+377delinsCATAACACTGCATTA MANE Select	ENSP00000475939.1:n.12387+363_12387+377delinsCATAACACTGCATTA
ENST00000328843.10:c.12408+363_12408+377delinsCATAACACTGCATTA	ENSP00000330671.7:n.12408+363_12408+377delinsCATAACACTGCATTA
ENST00000409508.7:c.12387+363_12387+377delinsCATAACACTGCATTA	ENSP00000475939.1:n.12387+363_12387+377delinsCATAACACTGCATTA
ENST00000620169.4:c.12408+363_12408+377delinsCATAACACTGCATTA	ENSP00000481693.1:n.12408+363_12408+377delinsCATAACACTGCATTA
NM_001277115.1:c.12387+363_12387+377delinsCATAACACTGCATTA	NP_001264044.1:n.12387+363_12387+377delinsCATAACACTGCATTA
NM_001277115.2:c.12387+363_12387+377delinsCATAACACTGCATTA MANE Select	NP_001264044.1:n.12387+363_12387+377delinsCATAACACTGCATTA