Canonical Allele Identifier: CA572920110

Gene: DNAH11

Linked Data

• dbSNP Id: rs1389840828
• gnomAD v2: 7-21745363-AAT-A
• gnomAD v3: 7-21705745-AAT-A
• gnomAD v4: 7-21705745-AAT-A
• MyVariant Identifiers: chr7:g.21745364_21745365del (hg19) ; chr7:g.21705746_21705747del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21705747_21705748del , CM000669.2:g.21705747_21705748del	GRCh38
NC_000007.13:g.21745365_21745366del , CM000669.1:g.21745365_21745366del	GRCh37
NC_000007.12:g.21711890_21711891del	NCBI36
NG_012886.2:g.167533_167534del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.6546+210_6546+211del MANE Select	ENSP00000475939.1:n.6546+210_6546+211del
ENST00000328843.10:c.6567+210_6567+211del	ENSP00000330671.7:n.6567+210_6567+211del
ENST00000409508.7:c.6546+210_6546+211del	ENSP00000475939.1:n.6546+210_6546+211del
ENST00000620169.4:c.6567+210_6567+211del	ENSP00000481693.1:n.6567+210_6567+211del
NM_001277115.1:c.6546+210_6546+211del	NP_001264044.1:n.6546+210_6546+211del
NM_001277115.2:c.6546+210_6546+211del MANE Select	NP_001264044.1:n.6546+210_6546+211del