Canonical Allele Identifier: CA2574750620

Gene: DENND5A

Linked Data

• ClinVar Variation Id: 2641593
• ClinVar RCV Id: RCV003409265

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.9203997dup , CM000673.2:g.9203997dup	GRCh38
NC_000011.9:g.9225544dup , CM000673.1:g.9225544dup	GRCh37
NC_000011.8:g.9182120dup	NCBI36
NG_053019.1:g.66339dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000328194.8:c.612dup MANE Select	ENSP00000328524.3:p.Lys205Ter
ENST00000530780.2:c.*438dup	ENSP00000433925.1:n.*438dup
ENST00000530867.2:n.401dup
ENST00000532696.2:n.535dup
ENST00000679446.1:n.533dup
ENST00000679460.1:n.401dup
ENST00000679568.1:c.612dup	ENSP00000505860.1:p.Lys205Ter
ENST00000679745.1:n.401dup
ENST00000679999.1:c.612dup	ENSP00000505198.1:p.Lys205Ter
ENST00000680252.1:c.401dup
ENST00000680294.1:c.612dup	ENSP00000506113.1:p.Lys205Ter
ENST00000680470.1:c.612dup	ENSP00000505975.1:p.Lys205Ter
ENST00000680554.1:c.324dup	ENSP00000505621.1:p.Lys109Ter
ENST00000680576.1:n.401dup
ENST00000680599.1:n.529dup
ENST00000680742.1:c.612dup	ENSP00000505206.1:p.Lys205Ter
ENST00000680885.1:n.533dup
ENST00000681158.1:c.401dup
ENST00000681173.1:n.401dup
ENST00000681203.1:c.540dup	ENSP00000506456.1:p.Lys181Ter
ENST00000681425.1:n.533dup
ENST00000681915.1:n.401dup
ENST00000328194.7:c.612dup	ENSP00000328524.3:p.Lys205Ter
ENST00000526707.5:c.540dup	ENSP00000436780.1:p.Lys181Ter
ENST00000530044.5:c.612dup	ENSP00000435866.1:p.Lys205Ter
ENST00000532696.1:n.367dup
NM_001243254.1:c.612dup	NP_001230183.1:p.Lys205Ter
NM_015213.3:c.612dup	NP_056028.2:p.Lys205Ter
XM_005252832.1:c.612dup	XP_005252889.1:p.Lys205Ter
XM_011519952.1:c.612dup	XP_011518254.1:p.Lys205Ter
XR_242782.2:n.877dup
XR_930851.1:n.877dup
XR_930852.1:n.877dup
XR_930853.1:n.877dup
NM_001348749.1:c.540dup	NP_001335678.1:p.Lys181Ter
NM_001348750.1:c.324dup	NP_001335679.1:p.Lys109Ter
NR_145966.2:n.869dup
NM_015213.4:c.612dup MANE Select	NP_056028.2:p.Lys205Ter
NM_001243254.2:c.612dup	NP_001230183.1:p.Lys205Ter
NM_001348749.2:c.540dup	NP_001335678.1:p.Lys181Ter
NM_001348750.2:c.324dup	NP_001335679.1:p.Lys109Ter