Canonical Allele Identifier: CA2200859705

Gene: NPRL3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.113561_113562delinsGA , CM000678.2:g.113561_113562delinsGA	GRCh38
NC_000016.9:g.163560_163561delinsGA , CM000678.1:g.163560_163561delinsGA	GRCh37
NC_000016.8:g.103560_103561delinsGA	NCBI36
NG_029669.1:g.30137_30138delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000611875.5:c.394-787_394-786delinsTC MANE Select	ENSP00000478273.1:n.394-787_394-786delinsTC
ENST00000399953.7:c.319-787_319-786delinsTC	ENSP00000382834.4:n.319-787_319-786delinsTC
ENST00000419636.1:c.433-787_433-786delinsTC	ENSP00000399894.1:n.433-787_433-786delinsTC
ENST00000422814.5:c.37-787_37-786delinsTC	ENSP00000395288.1:n.37-787_37-786delinsTC
ENST00000456528.5:c.*195-787_*195-786delinsTC	ENSP00000401529.1:n.*195-787_*195-786delinsTC
ENST00000457916.5:c.*135-787_*135-786delinsTC	ENSP00000405942.1:n.*135-787_*135-786delinsTC
ENST00000468260.5:c.160-787_160-786delinsTC	ENSP00000477764.1:n.160-787_160-786delinsTC
ENST00000473674.5:n.258-787_258-786delinsTC
ENST00000483663.5:c.*135-787_*135-786delinsTC	ENSP00000418475.1:n.*135-787_*135-786delinsTC
ENST00000611875.4:c.394-787_394-786delinsTC	ENSP00000478273.1:n.394-787_394-786delinsTC
ENST00000620134.4:c.394-787_394-786delinsTC	ENSP00000483814.1:n.394-787_394-786delinsTC
ENST00000621703.4:c.189-787_189-786delinsTC	ENSP00000477801.1:n.189-787_189-786delinsTC
ENST00000622194.4:c.*30-787_*30-786delinsTC	ENSP00000478045.1:n.*30-787_*30-786delinsTC
NM_001039476.2:c.-144-787_-144-786delinsTC	NP_001034565.1:n.-144-787_-144-786delinsTC
NM_001077350.2:c.394-787_394-786delinsTC	NP_001070818.1:n.394-787_394-786delinsTC
NM_001243247.1:c.160-787_160-786delinsTC	NP_001230176.1:n.160-787_160-786delinsTC
NM_001243248.1:c.319-787_319-786delinsTC	NP_001230177.1:n.319-787_319-786delinsTC
NM_001243249.1:c.319-787_319-786delinsTC	NP_001230178.1:n.319-787_319-786delinsTC
XM_011522668.1:c.433-787_433-786delinsTC	XP_011520970.1:n.433-787_433-786delinsTC
XM_011522669.1:c.394-787_394-786delinsTC	XP_011520971.1:n.394-787_394-786delinsTC
XM_011522670.1:c.394-787_394-786delinsTC	XP_011520972.1:n.394-787_394-786delinsTC
XM_011522671.1:c.358-787_358-786delinsTC	XP_011520973.1:n.358-787_358-786delinsTC
XM_011522672.1:c.319-787_319-786delinsTC	XP_011520974.1:n.319-787_319-786delinsTC
XM_011522673.1:c.319-787_319-786delinsTC	XP_011520975.1:n.319-787_319-786delinsTC
XM_011522674.1:c.319-787_319-786delinsTC	XP_011520976.1:n.319-787_319-786delinsTC
XM_011522675.1:c.160-787_160-786delinsTC	XP_011520977.1:n.160-787_160-786delinsTC
XM_011522676.1:c.160-787_160-786delinsTC	XP_011520978.1:n.160-787_160-786delinsTC
XM_011522677.1:c.160-787_160-786delinsTC	XP_011520979.1:n.160-787_160-786delinsTC
XM_011522678.1:c.-144-787_-144-786delinsTC	XP_011520980.1:n.-144-787_-144-786delinsTC
XM_011522679.1:c.-144-787_-144-786delinsTC	XP_011520981.1:n.-144-787_-144-786delinsTC
XM_011522680.1:c.-144-787_-144-786delinsTC	XP_011520982.1:n.-144-787_-144-786delinsTC
XM_011522681.1:c.-144-787_-144-786delinsTC	XP_011520983.1:n.-144-787_-144-786delinsTC
NM_001077350.3:c.394-787_394-786delinsTC MANE Select	NP_001070818.1:n.394-787_394-786delinsTC
NM_001039476.3:c.-144-787_-144-786delinsTC	NP_001034565.1:n.-144-787_-144-786delinsTC
NM_001243247.2:c.160-787_160-786delinsTC	NP_001230176.1:n.160-787_160-786delinsTC
NM_001243248.2:c.319-787_319-786delinsTC	NP_001230177.1:n.319-787_319-786delinsTC
NM_001243249.2:c.319-787_319-786delinsTC	NP_001230178.1:n.319-787_319-786delinsTC