Canonical Allele Identifier: CA2580073162

Gene: NPR3

Linked Data

• ClinVar Variation Id: 2015311
• ClinVar RCV Id: RCV002846291

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.32712118_32712123del , CM000667.2:g.32712118_32712123del	GRCh38
NC_000005.9:g.32712224_32712229del , CM000667.1:g.32712224_32712229del	GRCh37
NC_000005.8:g.32747981_32747986del	NCBI36
NG_028162.1:g.6482_6487del
NG_028162.2:g.28043_28048del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265074.13:c.342_347del MANE Select	ENSP00000265074.8:p.Phe114_Ser115del
ENST00000265074.12:c.342_347del	ENSP00000265074.8:p.Phe114_Ser115del
ENST00000326958.5:c.121+1335_121+1340del	ENSP00000318340.2:n.121+1335_121+1340del
ENST00000415167.2:c.342_347del	ENSP00000398028.2:p.Phe114_Ser115del
ENST00000434067.6:c.121+1335_121+1340del	ENSP00000388408.2:n.121+1335_121+1340del
ENST00000506712.1:n.130+1335_130+1340del
ENST00000509104.5:c.101-12580_101-12575del	ENSP00000425325.1:n.101-12580_101-12575del
NM_000908.3:c.342_347del	NP_000899.1:p.Phe114_Ser115del
NM_001204375.1:c.342_347del	NP_001191304.1:p.Phe114_Ser115del
NM_001204376.1:c.121+1335_121+1340del	NP_001191305.1:n.121+1335_121+1340del
XM_005248309.1:c.121+1335_121+1340del	XP_005248366.1:n.121+1335_121+1340del
XM_005248310.2:c.342_347del	XP_005248367.1:p.Phe114_Ser115del
XM_011514047.1:c.101-12580_101-12575del	XP_011512349.1:n.101-12580_101-12575del
XM_011514048.1:c.50-12580_50-12575del	XP_011512350.1:n.50-12580_50-12575del
XM_011514049.1:c.-8-12580_-8-12575del	XP_011512351.1:n.-8-12580_-8-12575del
XM_011514050.1:c.342_347del	XP_011512352.1:p.Phe114_Ser115del
NM_001363652.1:c.121+1335_121+1340del	NP_001350581.1:n.121+1335_121+1340del
NM_001364458.1:c.50-12580_50-12575del	NP_001351387.1:n.50-12580_50-12575del
NM_001364460.1:c.121+1335_121+1340del	NP_001351389.1:n.121+1335_121+1340del
XM_011514047.2:c.101-12580_101-12575del	XP_011512349.1:n.101-12580_101-12575del
XM_011514049.3:c.-8-12580_-8-12575del	XP_011512351.1:n.-8-12580_-8-12575del
XM_011514050.2:c.342_347del	XP_011512352.1:p.Phe114_Ser115del
XM_017009492.2:c.342_347del	XP_016864981.1:p.Phe114_Ser115del
NM_001204375.2:c.342_347del MANE Select	NP_001191304.1:p.Phe114_Ser115del
NM_000908.4:c.342_347del	NP_000899.1:p.Phe114_Ser115del
NM_001363652.2:c.121+1335_121+1340del	NP_001350581.1:n.121+1335_121+1340del
NM_001364458.2:c.50-12580_50-12575del	NP_001351387.1:n.50-12580_50-12575del
NM_001364460.2:c.121+1335_121+1340del	NP_001351389.1:n.121+1335_121+1340del
NM_001204376.2:c.121+1335_121+1340del	NP_001191305.1:n.121+1335_121+1340del