Canonical Allele Identifier: CA915943152

Gene: NFKB1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102593429_102593432del , CM000666.2:g.102593429_102593432del	GRCh38
NC_000004.11:g.103514586_103514589del , CM000666.1:g.103514586_103514589del	GRCh37
NC_000004.10:g.103733624_103733627del	NCBI36
NG_050628.1:g.97101_97104del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507079.6:c.1095_1098del	ENSP00000426147.2:p.Glu366LysfsTer?
ENST00000509165.2:c.1071_1074del	ENSP00000423877.2:p.Glu358LysfsTer?
ENST00000697794.1:c.*712_*715del	ENSP00000513443.1:n.*712_*715del
ENST00000697799.1:n.568_571del
ENST00000697800.1:n.210_213del
ENST00000226574.9:c.1071_1074del MANE Select	ENSP00000226574.4:p.Glu358LysfsTer?
ENST00000652569.1:c.1047_1050del
ENST00000652619.1:c.1092_1095del	ENSP00000499031.1:p.Glu365LysfsTer?
ENST00000226574.8:c.1071_1074del	ENSP00000226574.4:p.Glu358LysfsTer?
ENST00000394820.8:c.1068_1071del	ENSP00000378297.4:p.Glu357LysfsTer?
ENST00000504044.1:n.181_184del
ENST00000505458.5:c.1068_1071del	ENSP00000424790.1:p.Glu357LysfsTer?
ENST00000508584.1:c.450_453del	ENSP00000424815.1:p.Glu151LysfsTer?
ENST00000600343.5:c.528_531del	ENSP00000469340.1:p.Glu177LysfsTer?
NM_001165412.1:c.1068_1071del	NP_001158884.1:p.Glu357LysfsTer?
NM_003998.3:c.1071_1074del	NP_003989.2:p.Glu358LysfsTer?
XM_011532006.1:c.1092_1095del	XP_011530308.1:p.Glu365LysfsTer?
XM_011532007.1:c.1068_1071del	XP_011530309.1:p.Glu357LysfsTer?
XM_011532008.1:c.912_915del	XP_011530310.1:p.Glu305LysfsTer?
XM_011532009.1:c.675_678del	XP_011530311.1:p.Glu226LysfsTer?
NM_001319226.1:c.1068_1071del	NP_001306155.1:p.Glu357LysfsTer?
XM_011532006.2:c.1092_1095del	XP_011530308.1:p.Glu365LysfsTer?
XM_024454067.1:c.1095_1098del	XP_024309835.1:p.Glu366LysfsTer?
XM_024454068.1:c.1071_1074del	XP_024309836.1:p.Glu358LysfsTer?
XM_024454069.1:c.936_939del	XP_024309837.1:p.Glu313LysfsTer?
NM_003998.4:c.1071_1074del MANE Select	NP_003989.2:p.Glu358LysfsTer?
NM_001165412.2:c.1068_1071del	NP_001158884.1:p.Glu357LysfsTer?
NM_001319226.2:c.1068_1071del	NP_001306155.1:p.Glu357LysfsTer?
NM_001382625.1:c.1071_1074del	NP_001369554.1:p.Glu358LysfsTer?
NM_001382626.1:c.1071_1074del	NP_001369555.1:p.Glu358LysfsTer?
NM_001382627.1:c.1068_1071del	NP_001369556.1:p.Glu357LysfsTer?
NM_001382628.1:c.1029_1032del	NP_001369557.1:p.Glu344LysfsTer?