Canonical Allele Identifier: CA2681987055

Gene: DNAH11

Linked Data

• gnomAD v4: 7-21748593-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21748595del , CM000669.2:g.21748595del	GRCh38
NC_000007.13:g.21788213del , CM000669.1:g.21788213del	GRCh37
NC_000007.12:g.21754738del	NCBI36
NG_012886.2:g.210381del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.8526del MANE Select	ENSP00000475939.1:p.Ile2843SerfsTer?
ENST00000328843.10:c.8547del	ENSP00000330671.7:p.Ile2850SerfsTer?
ENST00000409508.7:c.8526del	ENSP00000475939.1:p.Ile2843SerfsTer?
ENST00000620169.4:c.8547del	ENSP00000481693.1:p.Ile2850SerfsTer?
NM_001277115.1:c.8526del	NP_001264044.1:p.Ile2843SerfsTer?
NM_001277115.2:c.8526del MANE Select	NP_001264044.1:p.Ile2843SerfsTer?