Canonical Allele Identifier: CA2624569268

Gene: NFKBIA

Linked Data

• gnomAD v4: 14-35404602-C-CCTCCATGGCCCACTCCTGGGGGCG

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.35404606_35404629dup , CM000676.2:g.35404606_35404629dup	GRCh38
NC_000014.8:g.35873812_35873835dup , CM000676.1:g.35873812_35873835dup	GRCh37
NC_000014.7:g.34943563_34943586dup	NCBI36
NG_007571.1:g.5113_5136dup , LRG_89:g.5113_5136dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000553342.2:c.19_42dup	ENSP00000451281.2:p.Glu14_Gly15insArgProG...
ENST00000557459.2:n.117_140dup
ENST00000697957.1:n.124_147dup
ENST00000697958.1:n.117_140dup
ENST00000697959.1:n.124_147dup
ENST00000697960.1:n.104_127dup
ENST00000697961.1:c.19_42dup	ENSP00000513487.1:p.Glu14_Gly15insArgProG...
ENST00000697966.1:n.49-12_60dup
ENST00000216797.10:c.19_42dup MANE Select	ENSP00000216797.6:p.Glu14_Gly15insArgProG...
ENST00000216797.9:c.19_42dup	ENSP00000216797.5:p.Glu14_Gly15insArgProG...
ENST00000553342.1:c.19_42dup	ENSP00000451281.1:p.Glu14_Gly15insArgProG...
ENST00000554001.5:c.19_42dup	ENSP00000450537.1:p.Glu14_Gly15insArgProG...
ENST00000555629.1:n.124_147dup
ENST00000557100.5:n.75_98dup
ENST00000557140.5:c.19_42dup	ENSP00000451257.1:p.Glu14_Gly15insArgProG...
ENST00000557459.1:n.117_140dup
NM_020529.2:c.19_42dup , LRG_89t1:c.19_42dup	NP_065390.1:p.Glu14_Gly15insArgProGlnGluT...
NM_020529.3:c.19_42dup MANE Select	NP_065390.1:p.Glu14_Gly15insArgProGlnGluT...