Canonical Allele Identifier: CA2534598000

Gene: DENND5A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9204083_9204084del , CM000673.2:g.9204083_9204084del	GRCh38
NC_000011.9:g.9225630_9225631del , CM000673.1:g.9225630_9225631del	GRCh37
NC_000011.8:g.9182206_9182207del	NCBI36
NG_053019.1:g.66252_66253del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328194.8:c.525_526del MANE Select	ENSP00000328524.3:p.Ser175ArgfsTer6
ENST00000530780.2:c.*351_*352del	ENSP00000433925.1:n.*351_*352del
ENST00000530867.2:n.314_315del
ENST00000532696.2:n.448_449del
ENST00000679446.1:n.446_447del
ENST00000679460.1:n.314_315del
ENST00000679568.1:c.525_526del	ENSP00000505860.1:p.Ser175ArgfsTer6
ENST00000679745.1:n.314_315del
ENST00000679999.1:c.525_526del	ENSP00000505198.1:p.Ser175ArgfsTer6
ENST00000680252.1:c.314_315del
ENST00000680294.1:c.525_526del	ENSP00000506113.1:p.Ser175ArgfsTer6
ENST00000680470.1:c.525_526del	ENSP00000505975.1:p.Ser175ArgfsTer6
ENST00000680554.1:c.237_238del	ENSP00000505621.1:p.Ser79ArgfsTer6
ENST00000680576.1:n.314_315del
ENST00000680599.1:n.442_443del
ENST00000680742.1:c.525_526del	ENSP00000505206.1:p.Ser175ArgfsTer6
ENST00000680885.1:n.446_447del
ENST00000681158.1:c.314_315del
ENST00000681173.1:n.314_315del
ENST00000681203.1:c.453_454del	ENSP00000506456.1:p.Ser151ArgfsTer6
ENST00000681425.1:n.446_447del
ENST00000681915.1:n.314_315del
ENST00000328194.7:c.525_526del	ENSP00000328524.3:p.Ser175ArgfsTer6
ENST00000526707.5:c.453_454del	ENSP00000436780.1:p.Ser151ArgfsTer6
ENST00000530044.5:c.525_526del	ENSP00000435866.1:p.Ser175ArgfsTer6
ENST00000530780.1:c.*351_*352del	ENSP00000433925.1:n.*351_*352del
ENST00000532696.1:n.280_281del
NM_001243254.1:c.525_526del	NP_001230183.1:p.Ser175ArgfsTer6
NM_015213.3:c.525_526del	NP_056028.2:p.Ser175ArgfsTer6
XM_005252832.1:c.525_526del	XP_005252889.1:p.Ser175ArgfsTer6
XM_011519952.1:c.525_526del	XP_011518254.1:p.Ser175ArgfsTer6
XR_242782.2:n.790_791del
XR_930851.1:n.790_791del
XR_930852.1:n.790_791del
XR_930853.1:n.790_791del
NM_001348749.1:c.453_454del	NP_001335678.1:p.Ser151ArgfsTer6
NM_001348750.1:c.237_238del	NP_001335679.1:p.Ser79ArgfsTer6
NR_145966.2:n.782_783del
NM_015213.4:c.525_526del MANE Select	NP_056028.2:p.Ser175ArgfsTer6
NM_001243254.2:c.525_526del	NP_001230183.1:p.Ser175ArgfsTer6
NM_001348749.2:c.453_454del	NP_001335678.1:p.Ser151ArgfsTer6
NM_001348750.2:c.237_238del	NP_001335679.1:p.Ser79ArgfsTer6