Canonical Allele Identifier: CA2641961995

Gene: NEDD4L

Linked Data

• gnomAD v4: 18-58149537-T-TGC

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.58149538_58149539insCG , CM000680.2:g.58149538_58149539insCG	GRCh38
NC_000018.9:g.55816770_55816771insCG , CM000680.1:g.55816770_55816771insCG	GRCh37
NC_000018.8:g.53967768_53967769insCG	NCBI36
NG_029954.1:g.110161_110162insCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000400345.8:c.49-16250_49-16249insCG MANE Select	ENSP00000383199.2:n.49-16250_49-16249insC...
ENST00000585594.6:n.26-16250_26-16249insCG
ENST00000674613.1:n.98-95889_98-95888insCG
ENST00000674845.1:c.*555-16250_*555-16249insCG	ENSP00000502309.1:n.*555-16250_*555-16249...
ENST00000675137.1:n.171-16250_171-16249insCG
ENST00000675147.1:c.28-16250_28-16249insCG	ENSP00000501840.1:n.28-16250_28-16249insC...
ENST00000675227.1:c.95-16250_95-16249insCG	ENSP00000502649.1:n.95-16250_95-16249insC...
ENST00000675502.1:c.-315-16250_-315-16249insCG	ENSP00000502428.1:n.-315-16250_-315-16249...
ENST00000675554.1:n.165-16250_165-16249insCG
ENST00000675801.1:c.-315-16250_-315-16249insCG	ENSP00000502688.1:n.-315-16250_-315-16249...
ENST00000676024.1:c.49-16250_49-16249insCG	ENSP00000502105.1:n.49-16250_49-16249insC...
ENST00000676223.1:c.10-16250_10-16249insCG	ENSP00000502361.1:n.10-16250_10-16249insC...
ENST00000256830.13:c.49-16250_49-16249insCG	ENSP00000256830.8:n.49-16250_49-16249insC...
ENST00000356462.10:c.49-16250_49-16249insCG	ENSP00000348847.5:n.49-16250_49-16249insC...
ENST00000357895.9:c.3_4insCG	ENSP00000350569.4:p.Arg3AspfsTer15
ENST00000382850.8:c.49-16250_49-16249insCG	ENSP00000372301.3:n.49-16250_49-16249insC...
ENST00000400345.7:c.49-16250_49-16249insCG	ENSP00000383199.2:n.49-16250_49-16249insC...
ENST00000435432.6:c.-425_-424insCG	ENSP00000393395.1:n.-425_-424insCG
ENST00000456986.5:c.-315-16250_-315-16249insCG	ENSP00000411947.1:n.-315-16250_-315-16249...
ENST00000585363.5:n.86-16250_86-16249insCG
ENST00000585594.5:n.169-16250_169-16249insCG
ENST00000586263.5:c.3_4insCG	ENSP00000468546.1:p.Arg3AspfsTer15
ENST00000587547.1:n.838-16250_838-16249insCG
ENST00000588516.5:n.1149-16250_1149-16249insCG
ENST00000589054.5:c.48+104830_48+104831insCG	ENSP00000465669.1:n.48+104830_48+104831in...
ENST00000590694.5:n.92-16250_92-16249insCG
ENST00000591579.5:n.93-16250_93-16249insCG
ENST00000591989.5:n.101-16254_101-16253insCG
ENST00000592846.5:c.-370-16254_-370-16253insCG	ENSP00000466776.1:n.-370-16254_-370-16253...
NM_001144964.1:c.-315-16250_-315-16249insCG	NP_001138436.1:n.-315-16250_-315-16249ins...
NM_001144965.1:c.-347_-346insCG	NP_001138437.1:n.-347_-346insCG
NM_001144967.2:c.49-16250_49-16249insCG	NP_001138439.1:n.49-16250_49-16249insCG
NM_001144968.1:c.3_4insCG	NP_001138440.1:p.Arg3AspfsTer15
NM_001144969.1:c.3_4insCG	NP_001138441.1:p.Arg3AspfsTer15
NM_001144971.1:c.-425_-424insCG	NP_001138443.1:n.-425_-424insCG
NM_001243960.1:c.49-16250_49-16249insCG	NP_001230889.1:n.49-16250_49-16249insCG
NM_015277.5:c.49-16250_49-16249insCG	NP_056092.2:n.49-16250_49-16249insCG
XM_006722426.2:c.49-16250_49-16249insCG	XP_006722489.1:n.49-16250_49-16249insCG
XM_006722428.2:c.49-16250_49-16249insCG	XP_006722491.1:n.49-16250_49-16249insCG
XM_011525887.1:c.3_4insCG	XP_011524189.1:p.Arg3AspfsTer15
XM_006722426.4:c.49-16250_49-16249insCG	XP_006722489.1:n.49-16250_49-16249insCG
XM_006722428.4:c.49-16250_49-16249insCG	XP_006722491.1:n.49-16250_49-16249insCG
XM_011525887.3:c.3_4insCG	XP_011524189.1:p.Arg3AspfsTer15
XM_017025678.2:c.49-16250_49-16249insCG	XP_016881167.1:n.49-16250_49-16249insCG
XM_024451129.1:c.-393-16250_-393-16249insCG	XP_024306897.1:n.-393-16250_-393-16249ins...
XM_024451131.1:c.-315-16250_-315-16249insCG	XP_024306899.1:n.-315-16250_-315-16249ins...
XM_024451134.1:c.-406_-405insCG	XP_024306902.1:n.-406_-405insCG
XM_024451135.1:c.-315-16250_-315-16249insCG	XP_024306903.1:n.-315-16250_-315-16249ins...
XM_024451136.1:c.-315-16250_-315-16249insCG	XP_024306904.1:n.-315-16250_-315-16249ins...
XM_024451137.1:c.-393-16250_-393-16249insCG	XP_024306905.1:n.-393-16250_-393-16249ins...
NM_001144967.3:c.49-16250_49-16249insCG MANE Select	NP_001138439.1:n.49-16250_49-16249insCG
NM_001144965.2:c.-347_-346insCG	NP_001138437.1:n.-347_-346insCG
NM_001144968.2:c.3_4insCG	NP_001138440.1:p.Arg3AspfsTer15
NM_001144969.2:c.3_4insCG	NP_001138441.1:p.Arg3AspfsTer15
NM_001144971.2:c.-425_-424insCG	NP_001138443.1:n.-425_-424insCG
NM_001243960.2:c.49-16250_49-16249insCG	NP_001230889.1:n.49-16250_49-16249insCG
NM_015277.6:c.49-16250_49-16249insCG	NP_056092.2:n.49-16250_49-16249insCG