Canonical Allele Identifier: CA2573138112

Gene: LRBA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.150285974_150285975delinsAT , CM000666.2:g.150285974_150285975delinsAT	GRCh38
NC_000004.11:g.151207126_151207127delinsAT , CM000666.1:g.151207126_151207127delinsAT	GRCh37
NC_000004.10:g.151426576_151426577delinsAT	NCBI36
NG_032855.1:g.734523_734524delinsAT

Transcript Alleles

HGVS	Amino-acid Change
NM_001364905.1:c.8077_8078delinsAT MANE Select	NP_001351834.1:p.Ala2693Met
ENST00000651943.2:c.8077_8078delinsAT MANE Select	ENSP00000498582.2:p.Ala2693Met
NM_001199282.2:c.8074_8075delinsAT	NP_001186211.2:p.Ala2692Met
NM_001367550.1:c.8092_8093delinsAT	NP_001354479.1:p.Ala2698Met
NM_006726.4:c.8110_8111delinsAT	NP_006717.2:p.Ala2704Met
ENST00000357115.7:c.8110_8111delinsAT	ENSP00000349629.3:p.Ala2704Met
ENST00000357115.9:c.8110_8111delinsAT	ENSP00000349629.3:p.Ala2704Met
ENST00000503716.5:n.2167_2168delinsAT
ENST00000508606.1:c.147_148delinsAT
ENST00000509835.5:c.4035_4036delinsAT
ENST00000510157.1:n.458_459delinsAT
ENST00000510157.2:n.693_694delinsAT
ENST00000510413.5:c.8074_8075delinsAT	ENSP00000421552.1:p.Ala2692Met
ENST00000515096.5:n.1369_1370delinsAT
ENST00000515096.6:n.4747_4748delinsAT
ENST00000648626.1:n.2542_2543delinsAT
ENST00000648823.1:c.1807_1808delinsAT
ENST00000648878.1:c.1570_1571delinsAT	ENSP00000497002.1:p.Ala524Met
ENST00000651035.1:c.*2438_*2439delinsAT	ENSP00000498673.1:n.*2438_*2439delinsAT
ENST00000651695.1:c.5806_5807delinsAT	ENSP00000498254.1:p.Ala1936Met
ENST00000651695.2:c.8092_8093delinsAT	ENSP00000498254.2:p.Ala2698Met
ENST00000697127.1:c.1750_1751delinsAT	ENSP00000513124.1:p.Ala584Met
ENST00000697128.1:c.2429_2430delinsAT
ENST00000697130.1:n.477_478delinsAT
XM_005263372.2:c.8125_8126delinsAT	XP_005263429.1:p.Ala2709Met
XM_005263372.3:c.8125_8126delinsAT	XP_005263429.1:p.Ala2709Met
XM_005263373.1:c.8125_8126delinsAT	XP_005263430.1:p.Ala2709Met
XM_005263373.3:c.8125_8126delinsAT	XP_005263430.1:p.Ala2709Met
XM_005263374.2:c.8092_8093delinsAT	XP_005263431.1:p.Ala2698Met
XM_005263374.3:c.8092_8093delinsAT	XP_005263431.1:p.Ala2698Met
XM_005263375.2:c.8077_8078delinsAT	XP_005263432.1:p.Ala2693Met
XM_011532434.1:c.8110_8111delinsAT	XP_011530736.1:p.Ala2704Met
XM_011532434.2:c.8110_8111delinsAT	XP_011530736.1:p.Ala2704Met
XM_017008872.2:c.8092_8093delinsAT	XP_016864361.1:p.Ala2698Met
XM_017008873.2:c.1795_1796delinsAT	XP_016864362.1:p.Ala599Met
XM_017008874.1:c.1789_1790delinsAT	XP_016864363.1:p.Ala597Met