Canonical Allele Identifier: CA217536299

Gene: DENND5A

Linked Data

• dbSNP Id: rs954497786
• gnomAD v4: 11-9141991-C-CG
• MyVariant Identifiers: chr11:g.9163538_9163539insG (hg19) ; chr11:g.9141991_9141992insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9141995dup , CM000673.2:g.9141995dup	GRCh38
NC_000011.9:g.9163542dup , CM000673.1:g.9163542dup	GRCh37
NC_000011.8:g.9120118dup	NCBI36
NG_053019.1:g.128344dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3628dup MANE Select	ENSP00000328524.3:p.Arg1210ProfsTer?
ENST00000525784.6:n.1490dup
ENST00000530780.2:c.*3454dup	ENSP00000433925.1:n.*3454dup
ENST00000531747.2:n.3299dup
ENST00000679446.1:n.3549dup
ENST00000679458.1:n.5029dup
ENST00000679460.1:n.4690dup
ENST00000679568.1:c.3628dup	ENSP00000505860.1:p.Arg1210ProfsTer24
ENST00000679745.1:n.4133dup
ENST00000679773.1:n.2789dup
ENST00000679926.1:n.4930dup
ENST00000679999.1:c.*685dup	ENSP00000505198.1:n.*685dup
ENST00000680252.1:c.3295dup
ENST00000680294.1:c.3421dup	ENSP00000506113.1:p.Arg1141ProfsTer?
ENST00000680358.1:n.2927dup
ENST00000680470.1:c.*1409dup	ENSP00000505975.1:n.*1409dup
ENST00000680554.1:c.*161dup	ENSP00000505621.1:n.*161dup
ENST00000680576.1:n.5104dup
ENST00000680599.1:n.3669dup
ENST00000680742.1:c.*161dup	ENSP00000505206.1:n.*161dup
ENST00000680791.1:n.2512dup
ENST00000680885.1:n.5330dup
ENST00000681158.1:c.3212dup
ENST00000681203.1:c.3556dup	ENSP00000506456.1:p.Arg1186ProfsTer?
ENST00000681371.1:n.3500dup
ENST00000681425.1:n.4106dup
ENST00000681639.1:n.1907dup
ENST00000328194.7:c.3628dup	ENSP00000328524.3:p.Arg1210ProfsTer?
ENST00000525784.5:c.564dup
ENST00000527700.5:n.3190dup
ENST00000528725.5:c.324dup
ENST00000529977.5:n.1529dup
ENST00000530044.5:c.3628dup	ENSP00000435866.1:p.Arg1210ProfsTer7
ENST00000531747.1:c.864dup
ENST00000533737.5:c.291dup
NM_001243254.1:c.3628dup	NP_001230183.1:p.Arg1210ProfsTer7
NM_015213.3:c.3628dup	NP_056028.2:p.Arg1210ProfsTer?
XM_005252832.1:c.3628dup	XP_005252889.1:p.Arg1210ProfsTer24
XM_011519952.1:c.3628dup	XP_011518254.1:p.Arg1210ProfsTer?
XM_011519953.1:c.1726dup	XP_011518255.1:p.Arg576ProfsTer24
XR_242782.2:n.3810dup
XR_930851.1:n.3810dup
NM_001348749.1:c.3556dup	NP_001335678.1:p.Arg1186ProfsTer?
NM_001348750.1:c.3340dup	NP_001335679.1:p.Arg1114ProfsTer?
NR_145966.2:n.3802dup
NM_015213.4:c.3628dup MANE Select	NP_056028.2:p.Arg1210ProfsTer?
NM_001243254.2:c.3628dup	NP_001230183.1:p.Arg1210ProfsTer7
NM_001348749.2:c.3556dup	NP_001335678.1:p.Arg1186ProfsTer?
NM_001348750.2:c.3340dup	NP_001335679.1:p.Arg1114ProfsTer?