Canonical Allele Identifier: CA2641962304

Gene: NEDD4L

Linked Data

• gnomAD v4: 18-58165838-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.58165843del , CM000680.2:g.58165843del	GRCh38
NC_000018.9:g.55833075del , CM000680.1:g.55833075del	GRCh37
NC_000018.8:g.53984073del	NCBI36
NG_029954.1:g.126466del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400345.8:c.104del MANE Select	ENSP00000383199.2:p.Lys35ArgfsTer11
ENST00000585594.6:n.81del
ENST00000674613.1:n.98-79584del
ENST00000674845.1:c.*610del	ENSP00000502309.1:n.*610del
ENST00000675137.1:n.226del
ENST00000675147.1:c.83del	ENSP00000501840.1:p.Lys28ArgfsTer11
ENST00000675502.1:c.-260del	ENSP00000502428.1:n.-260del
ENST00000675801.1:c.-260del	ENSP00000502688.1:n.-260del
ENST00000676024.1:c.104del	ENSP00000502105.1:p.Lys35ArgfsTer11
ENST00000676223.1:c.65del	ENSP00000502361.1:p.Lys22ArgfsTer11
ENST00000256830.13:c.104del	ENSP00000256830.8:p.Lys35ArgfsTer11
ENST00000356462.10:c.104del	ENSP00000348847.5:p.Lys35ArgfsTer11
ENST00000357895.9:c.80del	ENSP00000350569.4:p.Lys27ArgfsTer11
ENST00000382850.8:c.104del	ENSP00000372301.3:p.Lys35ArgfsTer11
ENST00000400345.7:c.104del	ENSP00000383199.2:p.Lys35ArgfsTer11
ENST00000435432.6:c.-338del	ENSP00000393395.1:n.-338del
ENST00000456986.5:c.-260del	ENSP00000411947.1:n.-260del
ENST00000585363.5:n.141del
ENST00000586263.5:c.80del	ENSP00000468546.1:p.Lys27ArgfsTer11
ENST00000588516.5:n.1204del
ENST00000589054.5:c.48+121135del	ENSP00000465669.1:n.48+121135del
ENST00000590694.5:n.147del
ENST00000591989.5:n.152del
ENST00000592846.5:c.-319del	ENSP00000466776.1:n.-319del
NM_001144964.1:c.-260del	NP_001138436.1:n.-260del
NM_001144965.1:c.-260del	NP_001138437.1:n.-260del
NM_001144967.2:c.104del	NP_001138439.1:p.Lys35ArgfsTer11
NM_001144968.1:c.80del	NP_001138440.1:p.Lys27ArgfsTer11
NM_001144969.1:c.80del	NP_001138441.1:p.Lys27ArgfsTer11
NM_001144971.1:c.-338del	NP_001138443.1:n.-338del
NM_001243960.1:c.104del	NP_001230889.1:p.Lys35ArgfsTer11
NM_015277.5:c.104del	NP_056092.2:p.Lys35ArgfsTer11
XM_006722426.2:c.104del	XP_006722489.1:p.Lys35ArgfsTer24
XM_006722428.2:c.104del	XP_006722491.1:p.Lys35ArgfsTer11
XM_011525887.1:c.80del	XP_011524189.1:p.Lys27ArgfsTer24
XM_006722426.4:c.104del	XP_006722489.1:p.Lys35ArgfsTer24
XM_006722428.4:c.104del	XP_006722491.1:p.Lys35ArgfsTer11
XM_011525887.3:c.80del	XP_011524189.1:p.Lys27ArgfsTer24
XM_017025678.2:c.104del	XP_016881167.1:p.Lys35ArgfsTer11
XM_024451129.1:c.-338del	XP_024306897.1:n.-338del
XM_024451131.1:c.-260del	XP_024306899.1:n.-260del
XM_024451134.1:c.-319del	XP_024306902.1:n.-319del
XM_024451135.1:c.-260del	XP_024306903.1:n.-260del
XM_024451136.1:c.-260del	XP_024306904.1:n.-260del
XM_024451137.1:c.-338del	XP_024306905.1:n.-338del
NM_001144967.3:c.104del MANE Select	NP_001138439.1:p.Lys35ArgfsTer11
NM_001144965.2:c.-260del	NP_001138437.1:n.-260del
NM_001144968.2:c.80del	NP_001138440.1:p.Lys27ArgfsTer11
NM_001144969.2:c.80del	NP_001138441.1:p.Lys27ArgfsTer11
NM_001144971.2:c.-338del	NP_001138443.1:n.-338del
NM_001243960.2:c.104del	NP_001230889.1:p.Lys35ArgfsTer11
NM_015277.6:c.104del	NP_056092.2:p.Lys35ArgfsTer11