Canonical Allele Identifier: CA681758122

Gene: DENND5A

Linked Data

• dbSNP Id: rs1234114605
• gnomAD v3: 11-9142074-CT-C
• gnomAD v4: 11-9142074-CT-C
• MyVariant Identifiers: chr11:g.9163622del (hg19) ; chr11:g.9142075del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9142076del , CM000673.2:g.9142076del	GRCh38
NC_000011.9:g.9163623del , CM000673.1:g.9163623del	GRCh37
NC_000011.8:g.9120199del	NCBI36
NG_053019.1:g.128261del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.3545del MANE Select	ENSP00000328524.3:p.Lys1182ArgfsTer4
ENST00000525784.6:n.1407del
ENST00000530780.2:c.*3371del	ENSP00000433925.1:n.*3371del
ENST00000531747.2:n.3216del
ENST00000679446.1:n.3466del
ENST00000679458.1:n.4946del
ENST00000679460.1:n.4607del
ENST00000679568.1:c.3545del	ENSP00000505860.1:p.Lys1182ArgfsTer4
ENST00000679745.1:n.4050del
ENST00000679773.1:n.2706del
ENST00000679926.1:n.4847del
ENST00000679999.1:c.*602del	ENSP00000505198.1:n.*602del
ENST00000680252.1:c.3212del
ENST00000680294.1:c.3338del	ENSP00000506113.1:p.Lys1113ArgfsTer4
ENST00000680358.1:n.2844del
ENST00000680470.1:c.*1326del	ENSP00000505975.1:n.*1326del
ENST00000680554.1:c.*78del	ENSP00000505621.1:n.*78del
ENST00000680576.1:n.5021del
ENST00000680599.1:n.3586del
ENST00000680742.1:c.*78del	ENSP00000505206.1:n.*78del
ENST00000680791.1:n.2429del
ENST00000680885.1:n.5247del
ENST00000681158.1:c.3129del
ENST00000681203.1:c.3473del	ENSP00000506456.1:p.Lys1158ArgfsTer4
ENST00000681371.1:n.3417del
ENST00000681425.1:n.4023del
ENST00000681639.1:n.1824del
ENST00000328194.7:c.3545del	ENSP00000328524.3:p.Lys1182ArgfsTer4
ENST00000525784.5:c.481del
ENST00000527700.5:n.3107del
ENST00000528725.5:c.241del
ENST00000529977.5:n.1446del
ENST00000530044.5:c.3545del	ENSP00000435866.1:p.Lys1182ArgfsTer4
ENST00000531747.1:c.781del
ENST00000533737.5:c.208del
NM_001243254.1:c.3545del	NP_001230183.1:p.Lys1182ArgfsTer4
NM_015213.3:c.3545del	NP_056028.2:p.Lys1182ArgfsTer4
XM_005252832.1:c.3545del	XP_005252889.1:p.Lys1182ArgfsTer4
XM_011519952.1:c.3545del	XP_011518254.1:p.Lys1182ArgfsTer4
XM_011519953.1:c.1643del	XP_011518255.1:p.Lys548ArgfsTer4
XR_242782.2:n.3727del
XR_930851.1:n.3727del
NM_001348749.1:c.3473del	NP_001335678.1:p.Lys1158ArgfsTer4
NM_001348750.1:c.3257del	NP_001335679.1:p.Lys1086ArgfsTer4
NR_145966.2:n.3719del
NM_015213.4:c.3545del MANE Select	NP_056028.2:p.Lys1182ArgfsTer4
NM_001243254.2:c.3545del	NP_001230183.1:p.Lys1182ArgfsTer4
NM_001348749.2:c.3473del	NP_001335678.1:p.Lys1158ArgfsTer4
NM_001348750.2:c.3257del	NP_001335679.1:p.Lys1086ArgfsTer4