Canonical Allele Identifier: CA658820716
Community Standard Title: NM_181332.3(NLGN4X):c.1254_1255del (p.Glu418AspfsTer12)
Gene: NLGN4X HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.5903425_5903426del , CM000685.2:g.5903425_5903426del GRCh38
NC_000023.10:g.5821466_5821467del , CM000685.1:g.5821466_5821467del GRCh37
NC_000023.9:g.5831466_5831467del NCBI36
NG_008881.1:g.330242_330243del
NG_008881.2:g.330459_330460del

Transcript Alleles

HGVS Amino-acid Change
NM_181332.3:c.1254_1255del MANE Select NP_851849.1:p.Glu418AspfsTer12
ENST00000381095.8:c.1254_1255del MANE Select ENSP00000370485.3:p.Glu418AspfsTer12
NM_001282145.1:c.1254_1255del NP_001269074.1:p.Glu418AspfsTer12
NM_001282145.2:c.1254_1255del NP_001269074.1:p.Glu418AspfsTer12
NM_001282146.1:c.1254_1255del NP_001269075.1:p.Glu418AspfsTer12
NM_001282146.2:c.1254_1255del NP_001269075.1:p.Glu418AspfsTer12
NM_020742.3:c.1254_1255del NP_065793.1:p.Glu418AspfsTer12
NM_020742.4:c.1254_1255del NP_065793.1:p.Glu418AspfsTer12
NM_181332.2:c.1254_1255del NP_851849.1:p.Glu418AspfsTer12
ENST00000275857.10:c.1254_1255del ENSP00000275857.6:p.Glu418AspfsTer12
ENST00000381092.1:c.1254_1255del ENSP00000370482.1:p.Glu418AspfsTer12
ENST00000381093.6:c.1254_1255del ENSP00000370483.3:p.Glu418AspfsTer12
ENST00000381095.7:c.1254_1255del ENSP00000370485.3:p.Glu418AspfsTer12
ENST00000538097.5:c.1257_1258del ENSP00000439203.2:p.Glu419AspfsTer12
ENST00000538097.6:c.1314_1315del ENSP00000439203.3:p.Glu438AspfsTer12
XM_005274564.1:c.1314_1315del XP_005274621.1:p.Glu438AspfsTer12
XM_005274564.3:c.1314_1315del XP_005274621.1:p.Glu438AspfsTer12
XM_005274565.1:c.1314_1315del XP_005274622.1:p.Glu438AspfsTer12
XM_005274565.2:c.1314_1315del XP_005274622.1:p.Glu438AspfsTer12
XM_005274566.3:c.1314_1315del XP_005274623.1:p.Glu438AspfsTer12
XM_005274566.4:c.1314_1315del XP_005274623.1:p.Glu438AspfsTer12
XM_006724504.2:c.1314_1315del XP_006724567.1:p.Glu438AspfsTer12
XM_006724504.3:c.1314_1315del XP_006724567.1:p.Glu438AspfsTer12
XM_011545547.1:c.1314_1315del XP_011543849.1:p.Glu438AspfsTer12
XM_011545547.2:c.1314_1315del XP_011543849.1:p.Glu438AspfsTer12
XM_011545548.1:c.1314_1315del XP_011543850.1:p.Glu438AspfsTer12
XM_011545548.2:c.1314_1315del XP_011543850.1:p.Glu438AspfsTer12
XM_017029691.1:c.1254_1255del XP_016885180.1:p.Glu418AspfsTer12
XM_017029692.1:c.1254_1255del XP_016885181.1:p.Glu418AspfsTer12
XM_017029693.1:c.1254_1255del XP_016885182.1:p.Glu418AspfsTer12