Canonical Allele Identifier: CA16043977
Gene: DENND5A HGNC NCBI

Linked Data

dbSNP Id: rs1057519307

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.9204094_9204095del , CM000673.2:g.9204094_9204095del GRCh38
NC_000011.9:g.9225641_9225642del , CM000673.1:g.9225641_9225642del GRCh37
NC_000011.8:g.9182217_9182218del NCBI36
NG_053019.1:g.66244_66245del

Transcript Alleles

HGVS Amino-acid change
ENST00000328194.8:c.517_518del MANE Select ENSP00000328524.3:p.Asp173ProfsTer8
ENST00000530780.2:c.*343_*344del ENSP00000433925.1:n.*343_*344del
ENST00000530867.2:n.306_307del
ENST00000532696.2:n.440_441del
ENST00000679446.1:n.438_439del
ENST00000679460.1:n.306_307del
ENST00000679568.1:c.517_518del ENSP00000505860.1:p.Asp173ProfsTer8
ENST00000679745.1:n.306_307del
ENST00000679999.1:c.517_518del ENSP00000505198.1:p.Asp173ProfsTer8
ENST00000680252.1:c.306_307del
ENST00000680294.1:c.517_518del ENSP00000506113.1:p.Asp173ProfsTer8
ENST00000680470.1:c.517_518del ENSP00000505975.1:p.Asp173ProfsTer8
ENST00000680554.1:c.229_230del ENSP00000505621.1:p.Asp77ProfsTer8
ENST00000680576.1:n.306_307del
ENST00000680599.1:n.434_435del
ENST00000680742.1:c.517_518del ENSP00000505206.1:p.Asp173ProfsTer8
ENST00000680885.1:n.438_439del
ENST00000681158.1:c.306_307del
ENST00000681173.1:n.306_307del
ENST00000681203.1:c.445_446del ENSP00000506456.1:p.Asp149ProfsTer8
ENST00000681425.1:n.438_439del
ENST00000681915.1:n.306_307del
ENST00000328194.7:c.517_518del ENSP00000328524.3:p.Asp173ProfsTer8
ENST00000526707.5:c.445_446del ENSP00000436780.1:p.Asp149ProfsTer8
ENST00000530044.5:c.517_518del ENSP00000435866.1:p.Asp173ProfsTer8
ENST00000530780.1:c.*343_*344del ENSP00000433925.1:n.*343_*344del
ENST00000532696.1:n.272_273del
NM_001243254.1:c.517_518del NP_001230183.1:p.Asp173ProfsTer8
NM_015213.3:c.517_518del NP_056028.2:p.Asp173ProfsTer8
XM_005252832.1:c.517_518del XP_005252889.1:p.Asp173ProfsTer8
XM_011519952.1:c.517_518del XP_011518254.1:p.Asp173ProfsTer8
XR_242782.2:n.782_783del
XR_930851.1:n.782_783del
XR_930852.1:n.782_783del
XR_930853.1:n.782_783del
NM_001348749.1:c.445_446del NP_001335678.1:p.Asp149ProfsTer8
NM_001348750.1:c.229_230del NP_001335679.1:p.Asp77ProfsTer8
NR_145966.2:n.774_775del
NM_015213.4:c.517_518del MANE Select NP_056028.2:p.Asp173ProfsTer8
NM_001243254.2:c.517_518del NP_001230183.1:p.Asp173ProfsTer8
NM_001348749.2:c.445_446del NP_001335678.1:p.Asp149ProfsTer8
NM_001348750.2:c.229_230del NP_001335679.1:p.Asp77ProfsTer8