Canonical Allele Identifier: CA295079425

Gene: NPLOC4

Linked Data

• dbSNP Id: rs746078041
• gnomAD v2: 17-79596775-TTC-T
• gnomAD v4: 17-81629749-TTC-T
• MyVariant Identifiers: chr17:g.79596776_79596777del (hg19) ; chr17:g.81629750_81629751del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81629755_81629756del , CM000679.2:g.81629755_81629756del	GRCh38
NC_000017.10:g.79596781_79596782del , CM000679.1:g.79596781_79596782del	GRCh37
NC_000017.9:g.77207186_77207187del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000705719.1:c.199_200del	ENSP00000516165.1:p.Glu67AsnfsTer18
ENST00000331134.11:c.70_71del MANE Select	ENSP00000331487.5:p.Glu24AsnfsTer18
ENST00000331134.10:c.70_71del	ENSP00000331487.5:p.Glu24AsnfsTer18
ENST00000374747.9:c.70_71del	ENSP00000363879.5:p.Glu24AsnfsTer18
ENST00000570300.1:n.91_92del
ENST00000574897.5:c.70_71del	ENSP00000461543.1:p.Glu24AsnfsTer18
ENST00000625705.1:c.67_68del	ENSP00000486640.1:p.Glu23AsnfsTer18
NM_017921.3:c.70_71del	NP_060391.2:p.Glu24AsnfsTer18
XM_011524979.1:c.70_71del	XP_011523281.1:p.Glu24AsnfsTer18
XM_011524980.1:c.70_71del	XP_011523282.1:p.Glu24AsnfsTer18
XM_011524981.1:c.70_71del	XP_011523283.1:p.Glu24AsnfsTer18
XM_011524982.1:c.70_71del	XP_011523284.1:p.Glu24AsnfsTer18
XR_934501.1:n.288_289del
XR_934502.1:n.288_289del
XM_011524982.2:c.70_71del	XP_011523284.1:p.Glu24AsnfsTer18
XR_001752557.1:n.288_289del
NM_017921.4:c.70_71del MANE Select	NP_060391.2:p.Glu24AsnfsTer18
NM_001369698.1:c.70_71del	NP_001356627.1:p.Glu24AsnfsTer18