Canonical Allele Identifier: CA2499217831
Community Standard Title: NM_001204375.2(NPR3):c.248del (p.Val83GlyfsTer?)
Gene: NPR3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.32712024del , CM000667.2:g.32712024del GRCh38
NC_000005.9:g.32712130del , CM000667.1:g.32712130del GRCh37
NC_000005.8:g.32747887del NCBI36
NG_028162.1:g.6388del
NG_028162.2:g.27949del

Transcript Alleles

HGVS Amino-acid Change
NM_001204375.2:c.248del MANE Select NP_001191304.1:p.Val83GlyfsTer?
ENST00000265074.13:c.248del MANE Select ENSP00000265074.8:p.Val83GlyfsTer?
NM_000908.3:c.248del NP_000899.1:p.Val83GlyfsTer?
NM_000908.4:c.248del NP_000899.1:p.Val83GlyfsTer?
NM_001204375.1:c.248del NP_001191304.1:p.Val83GlyfsTer?
NM_001204376.1:c.121+1241del NP_001191305.1:n.121+1241del
NM_001204376.2:c.121+1241del NP_001191305.1:n.121+1241del
NM_001363652.1:c.121+1241del NP_001350581.1:n.121+1241del
NM_001363652.2:c.121+1241del NP_001350581.1:n.121+1241del
NM_001364458.1:c.50-12674del NP_001351387.1:n.50-12674del
NM_001364458.2:c.50-12674del NP_001351387.1:n.50-12674del
NM_001364460.1:c.121+1241del NP_001351389.1:n.121+1241del
NM_001364460.2:c.121+1241del NP_001351389.1:n.121+1241del
ENST00000265074.12:c.248del ENSP00000265074.8:p.Val83GlyfsTer?
ENST00000326958.5:c.121+1241del ENSP00000318340.2:n.121+1241del
ENST00000415167.2:c.248del ENSP00000398028.2:p.Val83GlyfsTer?
ENST00000434067.6:c.121+1241del ENSP00000388408.2:n.121+1241del
ENST00000506712.1:n.130+1241del
ENST00000509104.5:c.101-12674del ENSP00000425325.1:n.101-12674del
XM_005248309.1:c.121+1241del XP_005248366.1:n.121+1241del
XM_005248310.2:c.248del XP_005248367.1:p.Val83GlyfsTer?
XM_011514047.1:c.101-12674del XP_011512349.1:n.101-12674del
XM_011514047.2:c.101-12674del XP_011512349.1:n.101-12674del
XM_011514048.1:c.50-12674del XP_011512350.1:n.50-12674del
XM_011514049.1:c.-8-12674del XP_011512351.1:n.-8-12674del
XM_011514049.3:c.-8-12674del XP_011512351.1:n.-8-12674del
XM_011514050.1:c.248del XP_011512352.1:p.Val83GlyfsTer?
XM_011514050.2:c.248del XP_011512352.1:p.Val83GlyfsTer?
XM_017009492.2:c.248del XP_016864981.1:p.Val83GlyfsTer?