Canonical Allele Identifier: CA572912759

Gene: DNAH11

Linked Data

• dbSNP Id: rs1455517033
• gnomAD v2: 7-21598778-CAAATA-C
• gnomAD v3: 7-21559160-CAAATA-C
• gnomAD v4: 7-21559160-CAAATA-C
• MyVariant Identifiers: chr7:g.21598779_21598783del (hg19) ; chr7:g.21559161_21559165del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21559170_21559174del , CM000669.2:g.21559170_21559174del	GRCh38
NC_000007.13:g.21598788_21598792del , CM000669.1:g.21598788_21598792del	GRCh37
NC_000007.12:g.21565313_21565317del	NCBI36
NG_012886.2:g.20956_20960del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.692+172_692+176del MANE Select	ENSP00000475939.1:n.692+172_692+176del
ENST00000328843.10:c.692+172_692+176del	ENSP00000330671.7:n.692+172_692+176del
ENST00000409508.7:c.692+172_692+176del	ENSP00000475939.1:n.692+172_692+176del
ENST00000620169.4:c.692+172_692+176del	ENSP00000481693.1:n.692+172_692+176del
NM_001277115.1:c.692+172_692+176del	NP_001264044.1:n.692+172_692+176del
NM_001277115.2:c.692+172_692+176del MANE Select	NP_001264044.1:n.692+172_692+176del