Canonical Allele Identifier: CA2640479552

Gene: NPLOC4

Linked Data

• gnomAD v4: 17-81629801-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81629803del , CM000679.2:g.81629803del	GRCh38
NC_000017.10:g.79596829del , CM000679.1:g.79596829del	GRCh37
NC_000017.9:g.77207234del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000705719.1:c.148del	ENSP00000516165.1:p.Ile50PhefsTer9
ENST00000331134.11:c.19del MANE Select	ENSP00000331487.5:p.Ile7PhefsTer9
ENST00000331134.10:c.19del	ENSP00000331487.5:p.Ile7PhefsTer9
ENST00000374747.9:c.19del	ENSP00000363879.5:p.Ile7PhefsTer9
ENST00000570300.1:n.40del
ENST00000574897.5:c.19del	ENSP00000461543.1:p.Ile7PhefsTer9
ENST00000625705.1:c.16del	ENSP00000486640.1:p.Ile6PhefsTer9
NM_017921.3:c.19del	NP_060391.2:p.Ile7PhefsTer9
XM_011524979.1:c.19del	XP_011523281.1:p.Ile7PhefsTer9
XM_011524980.1:c.19del	XP_011523282.1:p.Ile7PhefsTer9
XM_011524981.1:c.19del	XP_011523283.1:p.Ile7PhefsTer9
XM_011524982.1:c.19del	XP_011523284.1:p.Ile7PhefsTer9
XR_934501.1:n.237del
XR_934502.1:n.237del
XM_011524982.2:c.19del	XP_011523284.1:p.Ile7PhefsTer9
XR_001752557.1:n.237del
NM_017921.4:c.19del MANE Select	NP_060391.2:p.Ile7PhefsTer9
NM_001369698.1:c.19del	NP_001356627.1:p.Ile7PhefsTer9