Canonical Allele Identifier: CA2688780314

Gene: DENND3

Linked Data

• gnomAD v4: 8-141168306-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.141168307_141168308del , CM000670.2:g.141168307_141168308del	GRCh38
NC_000008.10:g.142178406_142178407del , CM000670.1:g.142178406_142178407del	GRCh37
NC_000008.9:g.142247588_142247589del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519811.6:c.2057_2058del MANE Select	ENSP00000428714.1:p.Pro686ArgfsTer6
ENST00000262585.6:c.1817_1818del	ENSP00000262585.2:p.Pro606ArgfsTer6
ENST00000424248.2:c.1661_1662del	ENSP00000410594.1:p.Pro554ArgfsTer6
ENST00000518668.5:c.1830_1831del
ENST00000519811.5:c.2057_2058del	ENSP00000428714.1:p.Pro686ArgfsTer6
ENST00000520482.1:n.1598_1599del
NM_014957.2:c.1817_1818del	NP_055772.2:p.Pro606ArgfsTer6
XM_005250838.3:c.1856_1857del	XP_005250895.2:p.Pro619ArgfsTer6
XM_005250839.2:c.1856_1857del	XP_005250896.2:p.Pro619ArgfsTer6
XM_005250840.3:c.1700_1701del	XP_005250897.2:p.Pro567ArgfsTer6
XM_005250841.2:c.1700_1701del	XP_005250898.2:p.Pro567ArgfsTer6
XM_005250842.3:c.1823_1824del	XP_005250899.1:p.Pro608ArgfsTer6
XM_005250843.3:c.1313_1314del	XP_005250900.1:p.Pro438ArgfsTer6
XM_011516933.1:c.1856_1857del	XP_011515235.1:p.Pro619ArgfsTer6
XM_011516934.1:c.1856_1857del	XP_011515236.1:p.Pro619ArgfsTer6
XM_011516935.1:c.1490_1491del	XP_011515237.1:p.Pro497ArgfsTer6
XM_011516936.1:c.1484_1485del	XP_011515238.1:p.Pro495ArgfsTer6
XM_011516937.1:c.1856_1857del	XP_011515239.1:p.Pro619ArgfsTer6
XM_011516938.1:c.1025_1026del	XP_011515240.1:p.Pro342ArgfsTer6
XM_011516939.1:c.554_555del	XP_011515241.1:p.Pro185ArgfsTer6
XM_011516940.1:c.554_555del	XP_011515242.1:p.Pro185ArgfsTer6
XM_011516941.1:c.1856_1857del	XP_011515243.1:p.Pro619ArgfsTer6
XM_011516942.1:c.1856_1857del	XP_011515244.1:p.Pro619ArgfsTer6
XR_242384.2:n.1986_1987del
XR_928310.1:n.1986_1987del
XR_928311.1:n.1986_1987del
XR_928312.1:n.1986_1987del
NM_001352890.2:c.2057_2058del	NP_001339819.2:p.Pro686ArgfsTer6
NM_001362798.1:c.2057_2058del	NP_001349727.1:p.Pro686ArgfsTer6
NM_014957.4:c.1856_1857del	NP_055772.3:p.Pro619ArgfsTer6
NR_148197.2:n.2153_2154del
XM_005250840.5:c.1901_1902del	XP_005250897.3:p.Pro634ArgfsTer6
XM_005250841.4:c.1901_1902del	XP_005250898.3:p.Pro634ArgfsTer6
XM_005250842.4:c.1823_1824del	XP_005250899.1:p.Pro608ArgfsTer6
XM_011516933.2:c.2057_2058del	XP_011515235.2:p.Pro686ArgfsTer6
XM_011516934.3:c.2057_2058del	XP_011515236.2:p.Pro686ArgfsTer6
XM_011516937.2:c.2057_2058del	XP_011515239.2:p.Pro686ArgfsTer6
XM_011516938.3:c.1025_1026del	XP_011515240.1:p.Pro342ArgfsTer6
XM_011516939.3:c.554_555del	XP_011515241.1:p.Pro185ArgfsTer6
XM_011516940.2:c.554_555del	XP_011515242.1:p.Pro185ArgfsTer6
XM_011516941.3:c.2057_2058del	XP_011515243.2:p.Pro686ArgfsTer6
XM_017013241.1:c.1856_1857del	XP_016868730.1:p.Pro619ArgfsTer6
XM_017013242.1:c.1313_1314del	XP_016868731.1:p.Pro438ArgfsTer6
XM_017013243.1:c.593_594del	XP_016868732.1:p.Pro198ArgfsTer6
XR_001745497.2:n.2203_2204del
XR_001745498.2:n.2203_2204del
XR_928310.3:n.2203_2204del
XR_928312.3:n.2203_2204del
NM_001352890.3:c.2057_2058del MANE Select	NP_001339819.2:p.Pro686ArgfsTer6
NM_001362798.2:c.2057_2058del	NP_001349727.1:p.Pro686ArgfsTer6
NM_014957.5:c.1856_1857del	NP_055772.3:p.Pro619ArgfsTer6
NR_148197.3:n.2176_2177del