Canonical Allele Identifier: CA2499217107

Gene: LRBA

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.150828199_150828226dup , CM000666.2:g.150828199_150828226dup	GRCh38
NC_000004.11:g.151749351_151749378dup , CM000666.1:g.151749351_151749378dup	GRCh37
NC_000004.10:g.151968801_151968828dup	NCBI36
NG_032855.1:g.192272_192299dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651695.2:c.5125_5152dup	ENSP00000498254.2:p.Gln1718ArgfsTer2
ENST00000697129.1:n.3452_3479dup
ENST00000357115.9:c.5125_5152dup	ENSP00000349629.3:p.Gln1718ArgfsTer2
ENST00000651035.1:c.5125_5152dup	ENSP00000498673.1:p.Gln1718ArgfsTer2
ENST00000651695.1:c.2839_2866dup	ENSP00000498254.1:p.Gln956ArgfsTer2
ENST00000651943.2:c.5125_5152dup MANE Select	ENSP00000498582.2:p.Gln1718ArgfsTer2
ENST00000357115.7:c.5125_5152dup	ENSP00000349629.3:p.Gln1718ArgfsTer2
ENST00000507224.5:c.5125_5152dup	ENSP00000422180.1:p.Gln1718ArgfsTer2
ENST00000509835.5:c.1083_1110dup
ENST00000510413.5:c.5125_5152dup	ENSP00000421552.1:p.Gln1718ArgfsTer2
NM_001199282.2:c.5125_5152dup	NP_001186211.2:p.Gln1718ArgfsTer2
NM_006726.4:c.5125_5152dup	NP_006717.2:p.Gln1718ArgfsTer2
XM_005263372.2:c.5125_5152dup	XP_005263429.1:p.Gln1718ArgfsTer2
XM_005263373.1:c.5125_5152dup	XP_005263430.1:p.Gln1718ArgfsTer2
XM_005263374.2:c.5125_5152dup	XP_005263431.1:p.Gln1718ArgfsTer2
XM_005263375.2:c.5125_5152dup	XP_005263432.1:p.Gln1718ArgfsTer2
XM_011532434.1:c.5125_5152dup	XP_011530736.1:p.Gln1718ArgfsTer2
NM_001364905.1:c.5125_5152dup MANE Select	NP_001351834.1:p.Gln1718ArgfsTer2
XM_005263372.3:c.5125_5152dup	XP_005263429.1:p.Gln1718ArgfsTer2
XM_005263373.3:c.5125_5152dup	XP_005263430.1:p.Gln1718ArgfsTer2
XM_005263374.3:c.5125_5152dup	XP_005263431.1:p.Gln1718ArgfsTer2
XM_011532434.2:c.5125_5152dup	XP_011530736.1:p.Gln1718ArgfsTer2
XM_017008872.2:c.5125_5152dup	XP_016864361.1:p.Gln1718ArgfsTer2
NM_001367550.1:c.5125_5152dup	NP_001354479.1:p.Gln1718ArgfsTer2