Canonical Allele Identifier: CA2580612471
Community Standard Title: NM_181303.2(NLGN3):c.658dup (p.Asp220GlyfsTer?)
Gene: NLGN3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71155294dup , CM000685.2:g.71155294dup GRCh38
NC_000023.10:g.70375144dup , CM000685.1:g.70375144dup GRCh37
NC_000023.9:g.70291869dup NCBI36
NG_015874.1:g.15464dup

Transcript Alleles

HGVS Amino-acid Change
NM_181303.2:c.658dup MANE Select NP_851820.1:p.Asp220GlyfsTer?
ENST00000358741.4:c.658dup MANE Select ENSP00000351591.4:p.Asp220GlyfsTer?
NM_001166660.1:c.538dup NP_001160132.1:p.Asp180GlyfsTer?
NM_001166660.2:c.538dup NP_001160132.1:p.Asp180GlyfsTer?
NM_001321276.1:c.247dup NP_001308205.1:p.Asp83GlyfsTer?
NM_001321276.2:c.247dup NP_001308205.1:p.Asp83GlyfsTer?
NM_018977.3:c.598dup NP_061850.2:p.Asp200GlyfsTer?
NM_018977.4:c.598dup NP_061850.2:p.Asp200GlyfsTer?
NM_181303.1:c.658dup NP_851820.1:p.Asp220GlyfsTer?
ENST00000358741.3:c.658dup ENSP00000351591.3:p.Asp220GlyfsTer?
ENST00000374051.7:c.598dup ENSP00000363163.3:p.Asp200GlyfsTer?
ENST00000395855.6:c.538dup ENSP00000379196.2:p.Asp180GlyfsTer?
ENST00000395855.7:c.538dup ENSP00000379196.3:p.Asp180GlyfsTer?
ENST00000476589.1:n.162dup
ENST00000476589.2:n.837dup
ENST00000536169.5:c.538dup ENSP00000445298.1:p.Asp180GlyfsTer?
ENST00000536169.6:c.538dup ENSP00000445298.1:p.Asp180GlyfsTer?
ENST00000612180.4:c.247dup ENSP00000479877.1:p.Asp83GlyfsTer?
ENST00000685718.1:c.598dup ENSP00000510514.1:p.Asp200GlyfsTer?
ENST00000687220.1:c.307dup ENSP00000509531.1:p.Asp103GlyfsTer?
ENST00000687470.1:c.658dup ENSP00000508881.1:p.Asp220GlyfsTer?
ENST00000687568.1:c.538dup ENSP00000509635.1:p.Asp180GlyfsTer?
ENST00000688566.1:c.307dup ENSP00000509202.1:p.Asp103GlyfsTer?
ENST00000688950.1:n.1641dup
ENST00000689857.1:c.457+7088dup ENSP00000510719.1:n.457+7088dup
ENST00000689968.1:c.598dup ENSP00000510150.1:p.Asp200GlyfsTer?
ENST00000690133.1:c.247dup ENSP00000508912.1:p.Asp83GlyfsTer?
ENST00000690293.1:c.*198dup ENSP00000509154.1:n.*198dup
ENST00000691045.1:n.545dup
ENST00000692338.1:c.247dup ENSP00000508700.1:p.Asp83GlyfsTer?
ENST00000692468.1:n.162dup
ENST00000692905.1:c.598dup ENSP00000510435.1:p.Asp200GlyfsTer?
XM_005262279.2:c.658dup XP_005262336.1:p.Asp220GlyfsTer?
XM_006724662.2:c.511dup XP_006724725.2:p.Asp171GlyfsTer?
XM_006724662.4:c.511dup XP_006724725.2:p.Asp171GlyfsTer?
XM_006724663.2:c.307dup XP_006724726.1:p.Asp103GlyfsTer?
XM_006724663.4:c.307dup XP_006724726.1:p.Asp103GlyfsTer?
XM_011530974.1:c.307dup XP_011529276.1:p.Asp103GlyfsTer?
XM_011530974.3:c.307dup XP_011529276.1:p.Asp103GlyfsTer?
XM_011530975.1:c.247dup XP_011529277.1:p.Asp83GlyfsTer?
XM_017029597.2:c.658dup XP_016885086.1:p.Asp220GlyfsTer?