Canonical Allele Identifier: CA572927351

Gene: DNAH11

Linked Data

• dbSNP Id: rs34933143
• gnomAD v2: 7-21920742-T-TAA
• gnomAD v3: 7-21881124-T-TAA
• gnomAD v4: 7-21881124-T-TAA
• MyVariant Identifiers: chr7:g.21920742_21920743insAA (hg19) ; chr7:g.21881124_21881125insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.21881132_21881133dup , CM000669.2:g.21881132_21881133dup	GRCh38
NC_000007.13:g.21920750_21920751dup , CM000669.1:g.21920750_21920751dup	GRCh37
NC_000007.12:g.21887275_21887276dup	NCBI36
NG_012886.2:g.342918_342919dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409508.8:c.12387+239_12387+240dup MANE Select	ENSP00000475939.1:n.12387+239_12387+240dup
ENST00000328843.10:c.12408+239_12408+240dup	ENSP00000330671.7:n.12408+239_12408+240dup
ENST00000409508.7:c.12387+239_12387+240dup	ENSP00000475939.1:n.12387+239_12387+240dup
ENST00000620169.4:c.12408+239_12408+240dup	ENSP00000481693.1:n.12408+239_12408+240dup
NM_001277115.1:c.12387+239_12387+240dup	NP_001264044.1:n.12387+239_12387+240dup
NM_001277115.2:c.12387+239_12387+240dup MANE Select	NP_001264044.1:n.12387+239_12387+240dup