Canonical Allele Identifier: CA4183060

Gene: DNAH11

Linked Data

• dbSNP Id: rs772457329
• ExAC: 7:21920542 AAGG / A
• gnomAD v2: 7-21920542-AAGG-A
• gnomAD v4: 7-21880924-AAGG-A
• MyVariant Identifiers: chr7:g.21920543_21920545del (hg19) ; chr7:g.21880925_21880927del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21880927_21880929del , CM000669.2:g.21880927_21880929del	GRCh38
NC_000007.13:g.21920545_21920547del , CM000669.1:g.21920545_21920547del	GRCh37
NC_000007.12:g.21887070_21887072del	NCBI36
NG_012886.2:g.342713_342715del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.12387+34_12387+36del MANE Select	ENSP00000475939.1:n.12387+34_12387+36del
ENST00000328843.10:c.12408+34_12408+36del	ENSP00000330671.7:n.12408+34_12408+36del
ENST00000409508.7:c.12387+34_12387+36del	ENSP00000475939.1:n.12387+34_12387+36del
ENST00000620169.4:c.12408+34_12408+36del	ENSP00000481693.1:n.12408+34_12408+36del
NM_001277115.1:c.12387+34_12387+36del	NP_001264044.1:n.12387+34_12387+36del
NM_001277115.2:c.12387+34_12387+36del MANE Select	NP_001264044.1:n.12387+34_12387+36del