Canonical Allele Identifier: CA600242515

Gene: LRRC51 LRTOMT LAMTOR1

Linked Data

• dbSNP Id: rs1565321178
• gnomAD v2: 11-71806089-G-GCTC
• gnomAD v4: 11-72095043-G-GCTC
• MyVariant Identifiers: chr11:g.71806089_71806090insCTC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72095045_72095047dup , CM000673.2:g.72095045_72095047dup	GRCh38
NC_000011.9:g.71806091_71806093dup , CM000673.1:g.71806091_71806093dup	GRCh37
NC_000011.8:g.71483739_71483741dup	NCBI36
NG_021423.1:g.19710_19712dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289488.8:c.386_388dup (LRRC51) MANE Select	ENSP00000289488.2:p.Leu129_Arg130insLeu
ENST00000289488.7:c.386_388dup (LRRC51)	ENSP00000289488.2:p.Leu129_Arg130insLeu
ENST00000535883.6:c.*449_*451dup (LRRC51)	ENSP00000437561.1:n.*449_*451dup
ENST00000536917.2:c.386_388dup (LRRC51)	ENSP00000443421.1:p.Leu129_Arg130insLeu
ENST00000538413.6:c.386_388dup (LRRC51)	ENSP00000438762.2:p.Leu129_Arg130insLeu
ENST00000539271.6:c.-29_-27dup (LRRC51)	ENSP00000442267.2:n.-29_-27dup
ENST00000539587.6:c.-29_-27dup (LRRC51)	ENSP00000437649.2:n.-29_-27dup
ENST00000642478.1:c.*449_*451dup (LRRC51)	ENSP00000495182.1:n.*449_*451dup
ENST00000642510.1:c.-29_-27dup (LRRC51)	ENSP00000496544.1:n.-29_-27dup
ENST00000642648.1:c.386_388dup (LRRC51)	ENSP00000494362.1:p.Leu129_Arg130insLeu
ENST00000643715.1:c.386_388dup (LRTOMT)	ENSP00000496019.1:p.Leu129_Arg130insLeu
ENST00000644745.1:n.521_523dup (LRRC51)
ENST00000645358.1:c.*449_*451dup (LRRC51)	ENSP00000495121.1:n.*449_*451dup
ENST00000646163.1:c.-29_-27dup (LRTOMT)	ENSP00000494749.1:n.-29_-27dup
ENST00000647530.1:c.386_388dup (LRRC51)	ENSP00000494072.1:p.Leu129_Arg130insLeu
ENST00000289488.6:c.386_388dup (LRRC51)	ENSP00000289488.2:p.Leu129_Arg130insLeu
ENST00000307198.11:c.-18_-16dup (LRRC51)	ENSP00000305742.7:n.-18_-16dup
ENST00000324866.11:c.386_388dup (LRRC51)	ENSP00000440693.1:p.Leu129_Arg130insLeu
ENST00000412777.6:n.413_415dup (LRRC51)
ENST00000419228.2:c.-18_-16dup (LRRC51)	ENSP00000392233.2:n.-18_-16dup
ENST00000423494.6:c.332_334dup (LRRC51)	ENSP00000441249.1:p.Leu111_Arg112insLeu
ENST00000427369.6:c.386_388dup (LRRC51)	ENSP00000409403.2:p.Leu129_Arg130insLeu
ENST00000435085.5:c.-18_-16dup (LRRC51)	ENSP00000409789.1:n.-18_-16dup
ENST00000439209.5:c.386_388dup (LRRC51)	ENSP00000395139.1:p.Leu129_Arg130insLeu
ENST00000440313.2:c.-18_-16dup (LRRC51)	ENSP00000390485.2:n.-18_-16dup
ENST00000447974.5:c.386_388dup (LRRC51)	ENSP00000414271.2:p.Leu129_Arg130insLeu
ENST00000535107.5:c.267-269_267-267dup (LAMTOR1)	ENSP00000445170.1:n.267-269_267-267dup
ENST00000535883.5:c.*449_*451dup (LRRC51)	ENSP00000437561.1:n.*449_*451dup
ENST00000536917.1:c.386_388dup (LRRC51)	ENSP00000443421.1:p.Leu129_Arg130insLeu
ENST00000538478.5:c.386_388dup (LRRC51)	ENSP00000444583.1:p.Leu129_Arg130insLeu
ENST00000539271.5:c.-18_-16dup (LRRC51)	ENSP00000442267.1:n.-18_-16dup
ENST00000539587.5:c.-18_-16dup (LRRC51)	ENSP00000437649.1:n.-18_-16dup
ENST00000541614.5:c.386_388dup (LRRC51)	ENSP00000438522.1:p.Leu129_Arg130insLeu
ENST00000544409.5:c.386_388dup (LRRC51)	ENSP00000440969.1:p.Leu129_Arg130insLeu
ENST00000545249.5:c.393+3243_393+3245dup (LAMTOR1)	ENSP00000440738.1:n.393+3243_393+3245dup
ENST00000615940.4:c.332_334dup (LRRC51)	ENSP00000482923.1:p.Leu111_Arg112insLeu
NM_001145307.4:c.386_388dup (LRTOMT)	NP_001138779.1:p.Leu129_Arg130insLeu
NM_001145308.4:c.-18_-16dup (LRTOMT)	NP_001138780.1:n.-18_-16dup
NM_001145309.3:c.-18_-16dup (LRTOMT)	NP_001138781.1:n.-18_-16dup
NM_001145310.3:c.-18_-16dup (LRTOMT)	NP_001138782.1:n.-18_-16dup
NM_001205138.3:c.332_334dup (LRTOMT)	NP_001192067.1:p.Leu111_Arg112insLeu
NM_001271471.2:c.386_388dup (LRTOMT)	NP_001258400.1:p.Leu129_Arg130insLeu
NM_145309.5:c.386_388dup (LRTOMT)	NP_660352.1:p.Leu129_Arg130insLeu
NR_026886.3:n.1260_1262dup (LRTOMT)
XM_006718472.2:c.386_388dup (LRTOMT)	XP_006718535.1:p.Leu129_Arg130insLeu
XM_006718473.2:c.386_388dup (LRTOMT)	XP_006718536.1:p.Leu129_Arg130insLeu
XM_006718474.2:c.386_388dup (LRTOMT)	XP_006718537.1:p.Leu129_Arg130insLeu
XM_011544847.1:c.386_388dup (LRTOMT)	XP_011543149.1:p.Leu129_Arg130insLeu
XM_011544848.1:c.386_388dup (LRTOMT)	XP_011543150.1:p.Leu129_Arg130insLeu
NM_001318803.1:c.386_388dup (LRTOMT)	NP_001305732.1:p.Leu129_Arg130insLeu
NR_134858.1:n.859_861dup (LRTOMT)
XM_006718473.4:c.386_388dup (LRTOMT)	XP_006718536.1:p.Leu129_Arg130insLeu
XM_006718474.4:c.386_388dup (LRTOMT)	XP_006718537.1:p.Leu129_Arg130insLeu
XM_011544847.3:c.386_388dup (LRTOMT)	XP_011543149.1:p.Leu129_Arg130insLeu
XM_011544848.3:c.386_388dup (LRTOMT)	XP_011543150.1:p.Leu129_Arg130insLeu
NM_001145307.5:c.386_388dup (LRTOMT)	NP_001138779.1:p.Leu129_Arg130insLeu
NM_001145308.5:c.-18_-16dup (LRTOMT)	NP_001138780.1:n.-18_-16dup
NM_001145309.4:c.-18_-16dup (LRTOMT)	NP_001138781.1:n.-18_-16dup
NM_001145310.4:c.-18_-16dup (LRTOMT)	NP_001138782.1:n.-18_-16dup
NM_001205138.4:c.332_334dup (LRTOMT)	NP_001192067.1:p.Leu111_Arg112insLeu
NM_001271471.3:c.386_388dup (LRTOMT)	NP_001258400.1:p.Leu129_Arg130insLeu
NM_001318803.2:c.386_388dup (LRTOMT)	NP_001305732.1:p.Leu129_Arg130insLeu
NM_145309.6:c.386_388dup (LRTOMT) MANE Select	NP_660352.1:p.Leu129_Arg130insLeu
NR_026886.4:n.741_743dup (LRTOMT)