Canonical Allele Identifier: CA572920099

Gene: DNAH11

Linked Data

• dbSNP Id: rs1472874405
• gnomAD v2: 7-21745198-TTTG-T
• gnomAD v4: 7-21705580-TTTG-T
• MyVariant Identifiers: chr7:g.21745199_21745201del (hg19) ; chr7:g.21705581_21705583del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21705585_21705587del , CM000669.2:g.21705585_21705587del	GRCh38
NC_000007.13:g.21745203_21745205del , CM000669.1:g.21745203_21745205del	GRCh37
NC_000007.12:g.21711728_21711730del	NCBI36
NG_012886.2:g.167371_167373del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.6546+48_6546+50del MANE Select	ENSP00000475939.1:n.6546+48_6546+50del
ENST00000328843.10:c.6567+48_6567+50del	ENSP00000330671.7:n.6567+48_6567+50del
ENST00000409508.7:c.6546+48_6546+50del	ENSP00000475939.1:n.6546+48_6546+50del
ENST00000620169.4:c.6567+48_6567+50del	ENSP00000481693.1:n.6567+48_6567+50del
NM_001277115.1:c.6546+48_6546+50del	NP_001264044.1:n.6546+48_6546+50del
NM_001277115.2:c.6546+48_6546+50del MANE Select	NP_001264044.1:n.6546+48_6546+50del