Canonical Allele Identifier: CA1069459775

Gene: LRBA

Linked Data

• dbSNP Id: rs1749553569
• gnomAD v3: 4-150844440-ACAAT-A
• gnomAD v4: 4-150844440-ACAAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.150844444_150844447del , CM000666.2:g.150844444_150844447del	GRCh38
NC_000004.11:g.151765596_151765599del , CM000666.1:g.151765596_151765599del	GRCh37
NC_000004.10:g.151985046_151985049del	NCBI36
NG_032855.1:g.176054_176057del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651695.2:c.4461+214_4461+217del	ENSP00000498254.2:n.4461+214_4461+217del
ENST00000697129.1:n.2788+214_2788+217del
ENST00000357115.9:c.4461+214_4461+217del	ENSP00000349629.3:n.4461+214_4461+217del
ENST00000651035.1:c.4461+214_4461+217del	ENSP00000498673.1:n.4461+214_4461+217del
ENST00000651695.1:c.2175+214_2175+217del	ENSP00000498254.1:n.2175+214_2175+217del
ENST00000651943.2:c.4461+214_4461+217del MANE Select	ENSP00000498582.2:n.4461+214_4461+217del
ENST00000357115.7:c.4461+214_4461+217del	ENSP00000349629.3:n.4461+214_4461+217del
ENST00000502839.1:c.192+214_192+217del	ENSP00000424640.1:n.192+214_192+217del
ENST00000507224.5:c.4461+214_4461+217del	ENSP00000422180.1:n.4461+214_4461+217del
ENST00000509835.5:c.419+214_419+217del
ENST00000510413.5:c.4461+214_4461+217del	ENSP00000421552.1:n.4461+214_4461+217del
NM_001199282.2:c.4461+214_4461+217del	NP_001186211.2:n.4461+214_4461+217del
NM_006726.4:c.4461+214_4461+217del	NP_006717.2:n.4461+214_4461+217del
XM_005263372.2:c.4461+214_4461+217del	XP_005263429.1:n.4461+214_4461+217del
XM_005263373.1:c.4461+214_4461+217del	XP_005263430.1:n.4461+214_4461+217del
XM_005263374.2:c.4461+214_4461+217del	XP_005263431.1:n.4461+214_4461+217del
XM_005263375.2:c.4461+214_4461+217del	XP_005263432.1:n.4461+214_4461+217del
XM_005263377.2:c.4461+214_4461+217del	XP_005263434.1:n.4461+214_4461+217del
XM_011532434.1:c.4461+214_4461+217del	XP_011530736.1:n.4461+214_4461+217del
NM_001364905.1:c.4461+214_4461+217del MANE Select	NP_001351834.1:n.4461+214_4461+217del
XM_005263372.3:c.4461+214_4461+217del	XP_005263429.1:n.4461+214_4461+217del
XM_005263373.3:c.4461+214_4461+217del	XP_005263430.1:n.4461+214_4461+217del
XM_005263374.3:c.4461+214_4461+217del	XP_005263431.1:n.4461+214_4461+217del
XM_011532434.2:c.4461+214_4461+217del	XP_011530736.1:n.4461+214_4461+217del
XM_017008872.2:c.4461+214_4461+217del	XP_016864361.1:n.4461+214_4461+217del
NM_001367550.1:c.4461+214_4461+217del	NP_001354479.1:n.4461+214_4461+217del