Canonical Allele Identifier: CA2512762807

Gene: DNAH11

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21705719_21705720insATGGCTTTATCAAT , CM000669.2:g.21705719_21705720insATGGCTTTATCAAT	GRCh38
NC_000007.13:g.21745337_21745338insATGGCTTTATCAAT , CM000669.1:g.21745337_21745338insATGGCTTTATCAAT	GRCh37
NC_000007.12:g.21711862_21711863insATGGCTTTATCAAT	NCBI36
NG_012886.2:g.167505_167506insATGGCTTTATCAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.6546+182_6546+183insATGGCTTTATCAAT MANE Select	ENSP00000475939.1:n.6546+182_6546+183insATGGCTTTATCAAT
ENST00000328843.10:c.6567+182_6567+183insATGGCTTTATCAAT	ENSP00000330671.7:n.6567+182_6567+183insATGGCTTTATCAAT
ENST00000409508.7:c.6546+182_6546+183insATGGCTTTATCAAT	ENSP00000475939.1:n.6546+182_6546+183insATGGCTTTATCAAT
ENST00000620169.4:c.6567+182_6567+183insATGGCTTTATCAAT	ENSP00000481693.1:n.6567+182_6567+183insATGGCTTTATCAAT
NM_001277115.1:c.6546+182_6546+183insATGGCTTTATCAAT	NP_001264044.1:n.6546+182_6546+183insATGGCTTTATCAAT
NM_001277115.2:c.6546+182_6546+183insATGGCTTTATCAAT MANE Select	NP_001264044.1:n.6546+182_6546+183insATGGCTTTATCAAT