Canonical Allele Identifier: CA848517121

Gene: DENND3

Linked Data

• dbSNP Id: rs1264289488
• gnomAD v3: 8-141168424-AG-A
• gnomAD v4: 8-141168424-AG-A
• MyVariant Identifiers: chr8:g.142178524del (hg19) ; chr8:g.141168425del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.141168425del , CM000670.2:g.141168425del	GRCh38
NC_000008.10:g.142178524del , CM000670.1:g.142178524del	GRCh37
NC_000008.9:g.142247706del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000519811.6:c.2175del MANE Select	ENSP00000428714.1:p.Lys726SerfsTer9
ENST00000262585.6:c.1935del	ENSP00000262585.2:p.Lys646SerfsTer9
ENST00000424248.2:c.1779del	ENSP00000410594.1:p.Lys594SerfsTer9
ENST00000518668.5:c.1948del
ENST00000519811.5:c.2175del	ENSP00000428714.1:p.Lys726SerfsTer9
ENST00000520482.1:n.1716del
NM_014957.2:c.1935del	NP_055772.2:p.Lys646SerfsTer9
XM_005250838.3:c.1974del	XP_005250895.2:p.Lys659SerfsTer9
XM_005250839.2:c.1974del	XP_005250896.2:p.Lys659SerfsTer9
XM_005250840.3:c.1818del	XP_005250897.2:p.Lys607SerfsTer9
XM_005250841.2:c.1818del	XP_005250898.2:p.Lys607SerfsTer9
XM_005250842.3:c.1941del	XP_005250899.1:p.Lys648SerfsTer9
XM_005250843.3:c.1431del	XP_005250900.1:p.Lys478SerfsTer9
XM_011516933.1:c.1974del	XP_011515235.1:p.Lys659SerfsTer9
XM_011516934.1:c.1974del	XP_011515236.1:p.Lys659SerfsTer9
XM_011516935.1:c.1608del	XP_011515237.1:p.Lys537SerfsTer9
XM_011516936.1:c.1602del	XP_011515238.1:p.Lys535SerfsTer9
XM_011516937.1:c.1974del	XP_011515239.1:p.Lys659SerfsTer9
XM_011516938.1:c.1143del	XP_011515240.1:p.Lys382SerfsTer9
XM_011516939.1:c.672del	XP_011515241.1:p.Lys225SerfsTer9
XM_011516940.1:c.672del	XP_011515242.1:p.Lys225SerfsTer9
XM_011516941.1:c.1974del	XP_011515243.1:p.Lys659SerfsTer9
XM_011516942.1:c.1974del	XP_011515244.1:p.Lys659SerfsTer9
XR_242384.2:n.2104del
XR_928310.1:n.2104del
XR_928311.1:n.2104del
XR_928312.1:n.2104del
NM_001352890.2:c.2175del	NP_001339819.2:p.Lys726SerfsTer9
NM_001362798.1:c.2175del	NP_001349727.1:p.Lys726SerfsTer9
NM_014957.4:c.1974del	NP_055772.3:p.Lys659SerfsTer9
NR_148197.2:n.2271del
XM_005250840.5:c.2019del	XP_005250897.3:p.Lys674SerfsTer9
XM_005250841.4:c.2019del	XP_005250898.3:p.Lys674SerfsTer9
XM_005250842.4:c.1941del	XP_005250899.1:p.Lys648SerfsTer9
XM_011516933.2:c.2175del	XP_011515235.2:p.Lys726SerfsTer9
XM_011516934.3:c.2175del	XP_011515236.2:p.Lys726SerfsTer9
XM_011516937.2:c.2175del	XP_011515239.2:p.Lys726SerfsTer9
XM_011516938.3:c.1143del	XP_011515240.1:p.Lys382SerfsTer9
XM_011516939.3:c.672del	XP_011515241.1:p.Lys225SerfsTer9
XM_011516940.2:c.672del	XP_011515242.1:p.Lys225SerfsTer9
XM_011516941.3:c.2175del	XP_011515243.2:p.Lys726SerfsTer9
XM_017013241.1:c.1974del	XP_016868730.1:p.Lys659SerfsTer9
XM_017013242.1:c.1431del	XP_016868731.1:p.Lys478SerfsTer9
XM_017013243.1:c.711del	XP_016868732.1:p.Lys238SerfsTer9
XR_001745497.2:n.2321del
XR_001745498.2:n.2321del
XR_928310.3:n.2321del
XR_928312.3:n.2321del
NM_001352890.3:c.2175del MANE Select	NP_001339819.2:p.Lys726SerfsTer9
NM_001362798.2:c.2175del	NP_001349727.1:p.Lys726SerfsTer9
NM_014957.5:c.1974del	NP_055772.3:p.Lys659SerfsTer9
NR_148197.3:n.2294del