Canonical Allele Identifier: CA2579262222

Gene: DENND3

Linked Data

• gnomAD v4: 8-141168317-G-GGGGGCTGAGCAGGCGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.141168320_141168336dup , CM000670.2:g.141168320_141168336dup	GRCh38
NC_000008.10:g.142178419_142178435dup , CM000670.1:g.142178419_142178435dup	GRCh37
NC_000008.9:g.142247601_142247617dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519811.6:c.2070_2086dup MANE Select	ENSP00000428714.1:p.Glu696GlyfsTer8
ENST00000262585.6:c.1830_1846dup	ENSP00000262585.2:p.Glu616GlyfsTer8
ENST00000424248.2:c.1674_1690dup	ENSP00000410594.1:p.Glu564GlyfsTer8
ENST00000518668.5:c.1843_1859dup
ENST00000519811.5:c.2070_2086dup	ENSP00000428714.1:p.Glu696GlyfsTer8
ENST00000520482.1:n.1611_1627dup
NM_014957.2:c.1830_1846dup	NP_055772.2:p.Glu616GlyfsTer8
XM_005250838.3:c.1869_1885dup	XP_005250895.2:p.Glu629GlyfsTer8
XM_005250839.2:c.1869_1885dup	XP_005250896.2:p.Glu629GlyfsTer8
XM_005250840.3:c.1713_1729dup	XP_005250897.2:p.Glu577GlyfsTer8
XM_005250841.2:c.1713_1729dup	XP_005250898.2:p.Glu577GlyfsTer8
XM_005250842.3:c.1836_1852dup	XP_005250899.1:p.Glu618GlyfsTer8
XM_005250843.3:c.1326_1342dup	XP_005250900.1:p.Glu448GlyfsTer8
XM_011516933.1:c.1869_1885dup	XP_011515235.1:p.Glu629GlyfsTer8
XM_011516934.1:c.1869_1885dup	XP_011515236.1:p.Glu629GlyfsTer8
XM_011516935.1:c.1503_1519dup	XP_011515237.1:p.Glu507GlyfsTer8
XM_011516936.1:c.1497_1513dup	XP_011515238.1:p.Glu505GlyfsTer8
XM_011516937.1:c.1869_1885dup	XP_011515239.1:p.Glu629GlyfsTer8
XM_011516938.1:c.1038_1054dup	XP_011515240.1:p.Glu352GlyfsTer8
XM_011516939.1:c.567_583dup	XP_011515241.1:p.Glu195GlyfsTer8
XM_011516940.1:c.567_583dup	XP_011515242.1:p.Glu195GlyfsTer8
XM_011516941.1:c.1869_1885dup	XP_011515243.1:p.Glu629GlyfsTer8
XM_011516942.1:c.1869_1885dup	XP_011515244.1:p.Glu629GlyfsTer8
XR_242384.2:n.1999_2015dup
XR_928310.1:n.1999_2015dup
XR_928311.1:n.1999_2015dup
XR_928312.1:n.1999_2015dup
NM_001352890.2:c.2070_2086dup	NP_001339819.2:p.Glu696GlyfsTer8
NM_001362798.1:c.2070_2086dup	NP_001349727.1:p.Glu696GlyfsTer8
NM_014957.4:c.1869_1885dup	NP_055772.3:p.Glu629GlyfsTer8
NR_148197.2:n.2166_2182dup
XM_005250840.5:c.1914_1930dup	XP_005250897.3:p.Glu644GlyfsTer8
XM_005250841.4:c.1914_1930dup	XP_005250898.3:p.Glu644GlyfsTer8
XM_005250842.4:c.1836_1852dup	XP_005250899.1:p.Glu618GlyfsTer8
XM_011516933.2:c.2070_2086dup	XP_011515235.2:p.Glu696GlyfsTer8
XM_011516934.3:c.2070_2086dup	XP_011515236.2:p.Glu696GlyfsTer8
XM_011516937.2:c.2070_2086dup	XP_011515239.2:p.Glu696GlyfsTer8
XM_011516938.3:c.1038_1054dup	XP_011515240.1:p.Glu352GlyfsTer8
XM_011516939.3:c.567_583dup	XP_011515241.1:p.Glu195GlyfsTer8
XM_011516940.2:c.567_583dup	XP_011515242.1:p.Glu195GlyfsTer8
XM_011516941.3:c.2070_2086dup	XP_011515243.2:p.Glu696GlyfsTer8
XM_017013241.1:c.1869_1885dup	XP_016868730.1:p.Glu629GlyfsTer8
XM_017013242.1:c.1326_1342dup	XP_016868731.1:p.Glu448GlyfsTer8
XM_017013243.1:c.606_622dup	XP_016868732.1:p.Glu208GlyfsTer8
XR_001745497.2:n.2216_2232dup
XR_001745498.2:n.2216_2232dup
XR_928310.3:n.2216_2232dup
XR_928312.3:n.2216_2232dup
NM_001352890.3:c.2070_2086dup MANE Select	NP_001339819.2:p.Glu696GlyfsTer8
NM_001362798.2:c.2070_2086dup	NP_001349727.1:p.Glu696GlyfsTer8
NM_014957.5:c.1869_1885dup	NP_055772.3:p.Glu629GlyfsTer8
NR_148197.3:n.2189_2205dup