Canonical Allele Identifier: CA2688780443

Gene: DENND3

Linked Data

• gnomAD v4: 8-141168450-A-ACACCCATTCTCATTTTATTT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.141168450_141168451insCACCCATTCTCATTTTATTT , CM000670.2:g.141168450_141168451insCACCCATTCTCATTTTATTT	GRCh38
NC_000008.10:g.142178549_142178550insCACCCATTCTCATTTTATTT , CM000670.1:g.142178549_142178550insCACCCATTCTCATTTTATTT	GRCh37
NC_000008.9:g.142247731_142247732insCACCCATTCTCATTTTATTT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519811.6:c.2200_2201insCACCCATTCTCATTTTATTT MANE Select	ENSP00000428714.1:p.Met734ThrfsTer8
ENST00000262585.6:c.1960_1961insCACCCATTCTCATTTTATTT	ENSP00000262585.2:p.Met654ThrfsTer8
ENST00000424248.2:c.1804_1805insCACCCATTCTCATTTTATTT	ENSP00000410594.1:p.Met602ThrfsTer8
ENST00000518668.5:c.1973_1974insCACCCATTCTCATTTTATTT
ENST00000519811.5:c.2200_2201insCACCCATTCTCATTTTATTT	ENSP00000428714.1:p.Met734ThrfsTer8
ENST00000520482.1:n.1741_1742insCACCCATTCTCATTTTATTT
NM_014957.2:c.1960_1961insCACCCATTCTCATTTTATTT	NP_055772.2:p.Met654ThrfsTer8
XM_005250838.3:c.1999_2000insCACCCATTCTCATTTTATTT	XP_005250895.2:p.Met667ThrfsTer8
XM_005250839.2:c.1999_2000insCACCCATTCTCATTTTATTT	XP_005250896.2:p.Met667ThrfsTer8
XM_005250840.3:c.1843_1844insCACCCATTCTCATTTTATTT	XP_005250897.2:p.Met615ThrfsTer8
XM_005250841.2:c.1843_1844insCACCCATTCTCATTTTATTT	XP_005250898.2:p.Met615ThrfsTer8
XM_005250842.3:c.1966_1967insCACCCATTCTCATTTTATTT	XP_005250899.1:p.Met656ThrfsTer8
XM_005250843.3:c.1456_1457insCACCCATTCTCATTTTATTT	XP_005250900.1:p.Met486ThrfsTer8
XM_011516933.1:c.1999_2000insCACCCATTCTCATTTTATTT	XP_011515235.1:p.Met667ThrfsTer8
XM_011516934.1:c.1999_2000insCACCCATTCTCATTTTATTT	XP_011515236.1:p.Met667ThrfsTer8
XM_011516935.1:c.1633_1634insCACCCATTCTCATTTTATTT	XP_011515237.1:p.Met545ThrfsTer8
XM_011516936.1:c.1627_1628insCACCCATTCTCATTTTATTT	XP_011515238.1:p.Met543ThrfsTer8
XM_011516937.1:c.1999_2000insCACCCATTCTCATTTTATTT	XP_011515239.1:p.Met667ThrfsTer8
XM_011516938.1:c.1168_1169insCACCCATTCTCATTTTATTT	XP_011515240.1:p.Met390ThrfsTer8
XM_011516939.1:c.697_698insCACCCATTCTCATTTTATTT	XP_011515241.1:p.Met233ThrfsTer8
XM_011516940.1:c.697_698insCACCCATTCTCATTTTATTT	XP_011515242.1:p.Met233ThrfsTer8
XM_011516941.1:c.1999_2000insCACCCATTCTCATTTTATTT	XP_011515243.1:p.Met667ThrfsTer8
XM_011516942.1:c.1999_2000insCACCCATTCTCATTTTATTT	XP_011515244.1:p.Met667ThrfsTer8
XR_242384.2:n.2129_2130insCACCCATTCTCATTTTATTT
XR_928310.1:n.2129_2130insCACCCATTCTCATTTTATTT
XR_928311.1:n.2129_2130insCACCCATTCTCATTTTATTT
XR_928312.1:n.2129_2130insCACCCATTCTCATTTTATTT
NM_001352890.2:c.2200_2201insCACCCATTCTCATTTTATTT	NP_001339819.2:p.Met734ThrfsTer8
NM_001362798.1:c.2200_2201insCACCCATTCTCATTTTATTT	NP_001349727.1:p.Met734ThrfsTer8
NM_014957.4:c.1999_2000insCACCCATTCTCATTTTATTT	NP_055772.3:p.Met667ThrfsTer8
NR_148197.2:n.2296_2297insCACCCATTCTCATTTTATTT
XM_005250840.5:c.2044_2045insCACCCATTCTCATTTTATTT	XP_005250897.3:p.Met682ThrfsTer8
XM_005250841.4:c.2044_2045insCACCCATTCTCATTTTATTT	XP_005250898.3:p.Met682ThrfsTer8
XM_005250842.4:c.1966_1967insCACCCATTCTCATTTTATTT	XP_005250899.1:p.Met656ThrfsTer8
XM_011516933.2:c.2200_2201insCACCCATTCTCATTTTATTT	XP_011515235.2:p.Met734ThrfsTer8
XM_011516934.3:c.2200_2201insCACCCATTCTCATTTTATTT	XP_011515236.2:p.Met734ThrfsTer8
XM_011516937.2:c.2200_2201insCACCCATTCTCATTTTATTT	XP_011515239.2:p.Met734ThrfsTer8
XM_011516938.3:c.1168_1169insCACCCATTCTCATTTTATTT	XP_011515240.1:p.Met390ThrfsTer8
XM_011516939.3:c.697_698insCACCCATTCTCATTTTATTT	XP_011515241.1:p.Met233ThrfsTer8
XM_011516940.2:c.697_698insCACCCATTCTCATTTTATTT	XP_011515242.1:p.Met233ThrfsTer8
XM_011516941.3:c.2200_2201insCACCCATTCTCATTTTATTT	XP_011515243.2:p.Met734ThrfsTer8
XM_017013241.1:c.1999_2000insCACCCATTCTCATTTTATTT	XP_016868730.1:p.Met667ThrfsTer8
XM_017013242.1:c.1456_1457insCACCCATTCTCATTTTATTT	XP_016868731.1:p.Met486ThrfsTer8
XM_017013243.1:c.736_737insCACCCATTCTCATTTTATTT	XP_016868732.1:p.Met246ThrfsTer8
XR_001745497.2:n.2346_2347insCACCCATTCTCATTTTATTT
XR_001745498.2:n.2346_2347insCACCCATTCTCATTTTATTT
XR_928310.3:n.2346_2347insCACCCATTCTCATTTTATTT
XR_928312.3:n.2346_2347insCACCCATTCTCATTTTATTT
NM_001352890.3:c.2200_2201insCACCCATTCTCATTTTATTT MANE Select	NP_001339819.2:p.Met734ThrfsTer8
NM_001362798.2:c.2200_2201insCACCCATTCTCATTTTATTT	NP_001349727.1:p.Met734ThrfsTer8
NM_014957.5:c.1999_2000insCACCCATTCTCATTTTATTT	NP_055772.3:p.Met667ThrfsTer8
NR_148197.3:n.2319_2320insCACCCATTCTCATTTTATTT