Canonical Allele Identifier: CA613804533

Gene: NFKBIA

Linked Data

• dbSNP Id: rs1202914381
• gnomAD v2: 14-35873767-GTCGTCCAGTAGCCGC-G
• MyVariant Identifiers: chr14:g.35873768_35873782del (hg19) ; chr14:g.35404562_35404576del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.35404564_35404578del , CM000676.2:g.35404564_35404578del	GRCh38
NC_000014.8:g.35873770_35873784del , CM000676.1:g.35873770_35873784del	GRCh37
NC_000014.7:g.34943521_34943535del	NCBI36
NG_007571.1:g.5163_5177del , LRG_89:g.5163_5177del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553342.2:c.69_83del	ENSP00000451281.2:p.Glu23_Asp27del
ENST00000557459.2:n.167_181del
ENST00000697957.1:n.174_188del
ENST00000697958.1:n.167_181del
ENST00000697959.1:n.174_188del
ENST00000697960.1:n.154_168del
ENST00000697961.1:c.69_83del	ENSP00000513487.1:p.Glu23_Asp27del
ENST00000697966.1:n.87_101del
ENST00000216797.10:c.69_83del MANE Select	ENSP00000216797.6:p.Glu23_Asp27del
ENST00000216797.9:c.69_83del	ENSP00000216797.5:p.Glu23_Asp27del
ENST00000553342.1:c.69_83del	ENSP00000451281.1:p.Glu23_Asp27del
ENST00000554001.5:c.69_83del	ENSP00000450537.1:p.Glu23_Asp27del
ENST00000555629.1:n.174_188del
ENST00000557100.5:n.125_139del
ENST00000557140.5:c.69_83del	ENSP00000451257.1:p.Glu23_Asp27del
ENST00000557459.1:n.167_181del
NM_020529.2:c.69_83del , LRG_89t1:c.69_83del	NP_065390.1:p.Glu23_Asp27del
NM_020529.3:c.69_83del MANE Select	NP_065390.1:p.Glu23_Asp27del