Canonical Allele Identifier: CA1503628415

Gene: LRBA

Linked Data

• dbSNP Id: rs1749511142

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.150844198_150844199del , CM000666.2:g.150844198_150844199del	GRCh38
NC_000004.11:g.151765350_151765351del , CM000666.1:g.151765350_151765351del	GRCh37
NC_000004.10:g.151984800_151984801del	NCBI36
NG_032855.1:g.176299_176300del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651695.2:c.4470_4471del	ENSP00000498254.2:p.Asp1491HisfsTer13
ENST00000697129.1:n.2797_2798del
ENST00000357115.9:c.4470_4471del	ENSP00000349629.3:p.Asp1491HisfsTer13
ENST00000651035.1:c.4470_4471del	ENSP00000498673.1:p.Asp1491HisfsTer13
ENST00000651695.1:c.2184_2185del	ENSP00000498254.1:p.Asp729HisfsTer13
ENST00000651943.2:c.4470_4471del MANE Select	ENSP00000498582.2:p.Asp1491HisfsTer13
ENST00000357115.7:c.4470_4471del	ENSP00000349629.3:p.Asp1491HisfsTer13
ENST00000502839.1:c.201_202del	ENSP00000424640.1:p.Asp68HisfsTer13
ENST00000507224.5:c.4470_4471del	ENSP00000422180.1:p.Asp1491HisfsTer13
ENST00000509835.5:c.428_429del
ENST00000510413.5:c.4470_4471del	ENSP00000421552.1:p.Asp1491HisfsTer13
NM_001199282.2:c.4470_4471del	NP_001186211.2:p.Asp1491HisfsTer13
NM_006726.4:c.4470_4471del	NP_006717.2:p.Asp1491HisfsTer13
XM_005263372.2:c.4470_4471del	XP_005263429.1:p.Asp1491HisfsTer13
XM_005263373.1:c.4470_4471del	XP_005263430.1:p.Asp1491HisfsTer13
XM_005263374.2:c.4470_4471del	XP_005263431.1:p.Asp1491HisfsTer13
XM_005263375.2:c.4470_4471del	XP_005263432.1:p.Asp1491HisfsTer13
XM_005263377.2:c.4470_4471del	XP_005263434.1:p.Asp1491HisfsTer13
XM_011532434.1:c.4470_4471del	XP_011530736.1:p.Asp1491HisfsTer13
NM_001364905.1:c.4470_4471del MANE Select	NP_001351834.1:p.Asp1491HisfsTer13
XM_005263372.3:c.4470_4471del	XP_005263429.1:p.Asp1491HisfsTer13
XM_005263373.3:c.4470_4471del	XP_005263430.1:p.Asp1491HisfsTer13
XM_005263374.3:c.4470_4471del	XP_005263431.1:p.Asp1491HisfsTer13
XM_011532434.2:c.4470_4471del	XP_011530736.1:p.Asp1491HisfsTer13
XM_017008872.2:c.4470_4471del	XP_016864361.1:p.Asp1491HisfsTer13
NM_001367550.1:c.4470_4471del	NP_001354479.1:p.Asp1491HisfsTer13