Canonical Allele Identifier: CA295079420

Gene: NPLOC4

Linked Data

• dbSNP Id: rs35511117
• gnomAD v4: 17-81629725-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81629730del , CM000679.2:g.81629730del	GRCh38
NC_000017.10:g.79596756del , CM000679.1:g.79596756del	GRCh37
NC_000017.9:g.77207161del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000705719.1:c.224del	ENSP00000516165.1:p.Lys75ArgfsTer25
ENST00000331134.11:c.95del MANE Select	ENSP00000331487.5:p.Lys32ArgfsTer25
ENST00000331134.10:c.95del	ENSP00000331487.5:p.Lys32ArgfsTer25
ENST00000374747.9:c.95del	ENSP00000363879.5:p.Lys32ArgfsTer25
ENST00000570300.1:n.116del
ENST00000574897.5:c.95del	ENSP00000461543.1:p.Lys32ArgfsTer25
ENST00000625705.1:c.92del	ENSP00000486640.1:p.Lys31ArgfsTer25
NM_017921.3:c.95del	NP_060391.2:p.Lys32ArgfsTer25
XM_011524979.1:c.95del	XP_011523281.1:p.Lys32ArgfsTer25
XM_011524980.1:c.95del	XP_011523282.1:p.Lys32ArgfsTer25
XM_011524981.1:c.95del	XP_011523283.1:p.Lys32ArgfsTer25
XM_011524982.1:c.95del	XP_011523284.1:p.Lys32ArgfsTer25
XR_934501.1:n.313del
XR_934502.1:n.313del
XM_011524982.2:c.95del	XP_011523284.1:p.Lys32ArgfsTer25
XR_001752557.1:n.313del
NM_017921.4:c.95del MANE Select	NP_060391.2:p.Lys32ArgfsTer25
NM_001369698.1:c.95del	NP_001356627.1:p.Lys32ArgfsTer25