Canonical Allele Identifier: CA573292095

Gene: DNAH11

Linked Data

• dbSNP Id: rs1462144983
• gnomAD v2: 7-21598196-TG-T
• gnomAD v3: 7-21558578-TG-T
• gnomAD v4: 7-21558578-TG-T
• MyVariant Identifiers: chr7:g.21598197del (hg19) ; chr7:g.21558579del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21558581del , CM000669.2:g.21558581del	GRCh38
NC_000007.13:g.21598199del , CM000669.1:g.21598199del	GRCh37
NC_000007.12:g.21564724del	NCBI36
NG_012886.2:g.20367del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.496-221del MANE Select	ENSP00000475939.1:n.496-221del
ENST00000328843.10:c.496-221del	ENSP00000330671.7:n.496-221del
ENST00000409508.7:c.496-221del	ENSP00000475939.1:n.496-221del
ENST00000620169.4:c.496-221del	ENSP00000481693.1:n.496-221del
NM_001277115.1:c.496-221del	NP_001264044.1:n.496-221del
NM_001277115.2:c.496-221del MANE Select	NP_001264044.1:n.496-221del