Canonical Allele Identifier: CA8394476

Gene: DNAH9

Linked Data

• ClinVar Variation Id: 523437
• ClinVar RCV Id: RCV000626803 ; RCV001270165 ; RCV001584455 ; RCV001619814
• dbSNP Id: rs769795916
• ExAC: 17:11502116 C / CT
• gnomAD v2: 17-11502116-C-CT
• gnomAD v3: 17-11598799-C-CT
• gnomAD v4: 17-11598799-C-CT
• MyVariant Identifiers: chr17:g.11502123dup (hg19) ; chr17:g.11502118_11502119insT (hg19) ; chr17:g.11502117_11502118insT (hg19) ; chr17:g.11502116_11502117insT (hg19) ; chr17:g.11598806dup (hg38) ; chr17:g.11598800_11598801insT (hg38) ; chr17:g.11598799_11598800insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.11598806dup , CM000679.2:g.11598806dup	GRCh38
NC_000017.10:g.11502123dup , CM000679.1:g.11502123dup	GRCh37
NC_000017.9:g.11442848dup	NCBI36
NG_047047.1:g.5376dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262442.9:c.308dup MANE Select	ENSP00000262442.3:p.Leu104ProfsTer?
ENST00000262442.8:c.308dup	ENSP00000262442.3:p.Leu104ProfsTer?
ENST00000454412.6:c.308dup	ENSP00000414874.2:p.Leu104ProfsTer?
ENST00000579406.1:n.335dup
ENST00000579828.5:c.308dup	ENSP00000463782.1:p.Leu104ProfsTer?
NM_001372.3:c.308dup	NP_001363.2:p.Leu104ProfsTer?
XM_011523703.1:c.308dup	XP_011522005.1:p.Leu104ProfsTer?
XM_011523703.2:c.308dup	XP_011522005.1:p.Leu104ProfsTer?
XM_017024292.2:c.308dup	XP_016879781.1:p.Leu104ProfsTer?
XM_017024294.2:c.308dup	XP_016879783.1:p.Leu104ProfsTer?
XM_017024295.2:c.308dup	XP_016879784.1:p.Leu104ProfsTer?
NM_001372.4:c.308dup MANE Select	NP_001363.2:p.Leu104ProfsTer?