Canonical Allele Identifier: CA6168230

Gene: LRRC51 LRTOMT LAMTOR1

Linked Data

• dbSNP Id: rs772196735
• ExAC: 11:71806066 AATAAGCTGGC / A
• gnomAD v2: 11-71806066-AATAAGCTGGC-A
• gnomAD v4: 11-72095020-AATAAGCTGGC-A
• MyVariant Identifiers: chr11:g.71806067_71806076del (hg19) ; chr11:g.72095021_72095030del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72095021_72095030del , CM000673.2:g.72095021_72095030del	GRCh38
NC_000011.9:g.71806067_71806076del , CM000673.1:g.71806067_71806076del	GRCh37
NC_000011.8:g.71483715_71483724del	NCBI36
NG_021423.1:g.19686_19695del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289488.8:c.362_371del (LRRC51) MANE Select	ENSP00000289488.2:p.Asn121MetfsTer9
ENST00000289488.7:c.362_371del (LRRC51)	ENSP00000289488.2:p.Asn121MetfsTer9
ENST00000535883.6:c.*425_*434del (LRRC51)	ENSP00000437561.1:n.*425_*434del
ENST00000536917.2:c.362_371del (LRRC51)	ENSP00000443421.1:p.Asn121MetfsTer9
ENST00000538413.6:c.362_371del (LRRC51)	ENSP00000438762.2:p.Asn121MetfsTer9
ENST00000539271.6:c.-53_-44del (LRRC51)	ENSP00000442267.2:n.-53_-44del
ENST00000539587.6:c.-53_-44del (LRRC51)	ENSP00000437649.2:n.-53_-44del
ENST00000642478.1:c.*425_*434del (LRRC51)	ENSP00000495182.1:n.*425_*434del
ENST00000642510.1:c.-53_-44del (LRRC51)	ENSP00000496544.1:n.-53_-44del
ENST00000642648.1:c.362_371del (LRRC51)	ENSP00000494362.1:p.Asn121MetfsTer9
ENST00000643715.1:c.362_371del (LRTOMT)	ENSP00000496019.1:p.Asn121MetfsTer9
ENST00000644745.1:n.497_506del (LRRC51)
ENST00000645358.1:c.*425_*434del (LRRC51)	ENSP00000495121.1:n.*425_*434del
ENST00000646163.1:c.-53_-44del (LRTOMT)	ENSP00000494749.1:n.-53_-44del
ENST00000647530.1:c.362_371del (LRRC51)	ENSP00000494072.1:p.Asn121MetfsTer9
ENST00000289488.6:c.362_371del (LRRC51)	ENSP00000289488.2:p.Asn121MetfsTer9
ENST00000307198.11:c.-42_-33del (LRRC51)	ENSP00000305742.7:n.-42_-33del
ENST00000324866.11:c.362_371del (LRRC51)	ENSP00000440693.1:p.Asn121MetfsTer9
ENST00000412777.6:n.389_398del (LRRC51)
ENST00000419228.2:c.-42_-33del (LRRC51)	ENSP00000392233.2:n.-42_-33del
ENST00000423494.6:c.308_317del (LRRC51)	ENSP00000441249.1:p.Asn103MetfsTer9
ENST00000427369.6:c.362_371del (LRRC51)	ENSP00000409403.2:p.Asn121MetfsTer9
ENST00000435085.5:c.-42_-33del (LRRC51)	ENSP00000409789.1:n.-42_-33del
ENST00000439209.5:c.362_371del (LRRC51)	ENSP00000395139.1:p.Asn121MetfsTer9
ENST00000440313.2:c.-42_-33del (LRRC51)	ENSP00000390485.2:n.-42_-33del
ENST00000447974.5:c.362_371del (LRRC51)	ENSP00000414271.2:p.Asn121MetfsTer9
ENST00000535107.5:c.267-253_267-244del (LAMTOR1)	ENSP00000445170.1:n.267-253_267-244del
ENST00000535883.5:c.*425_*434del (LRRC51)	ENSP00000437561.1:n.*425_*434del
ENST00000536917.1:c.362_371del (LRRC51)	ENSP00000443421.1:p.Asn121MetfsTer9
ENST00000538478.5:c.362_371del (LRRC51)	ENSP00000444583.1:p.Asn121MetfsTer9
ENST00000539271.5:c.-42_-33del (LRRC51)	ENSP00000442267.1:n.-42_-33del
ENST00000539587.5:c.-42_-33del (LRRC51)	ENSP00000437649.1:n.-42_-33del
ENST00000541614.5:c.362_371del (LRRC51)	ENSP00000438522.1:p.Asn121MetfsTer9
ENST00000544409.5:c.362_371del (LRRC51)	ENSP00000440969.1:p.Asn121MetfsTer9
ENST00000545249.5:c.393+3259_393+3268del (LAMTOR1)	ENSP00000440738.1:n.393+3259_393+3268del
ENST00000615940.4:c.308_317del (LRRC51)	ENSP00000482923.1:p.Asn103MetfsTer9
NM_001145307.4:c.362_371del (LRTOMT)	NP_001138779.1:p.Asn121MetfsTer9
NM_001145308.4:c.-42_-33del (LRTOMT)	NP_001138780.1:n.-42_-33del
NM_001145309.3:c.-42_-33del (LRTOMT)	NP_001138781.1:n.-42_-33del
NM_001145310.3:c.-42_-33del (LRTOMT)	NP_001138782.1:n.-42_-33del
NM_001205138.3:c.308_317del (LRTOMT)	NP_001192067.1:p.Asn103MetfsTer9
NM_001271471.2:c.362_371del (LRTOMT)	NP_001258400.1:p.Asn121MetfsTer9
NM_145309.5:c.362_371del (LRTOMT)	NP_660352.1:p.Asn121MetfsTer9
NR_026886.3:n.1236_1245del (LRTOMT)
XM_006718472.2:c.362_371del (LRTOMT)	XP_006718535.1:p.Asn121MetfsTer9
XM_006718473.2:c.362_371del (LRTOMT)	XP_006718536.1:p.Asn121MetfsTer9
XM_006718474.2:c.362_371del (LRTOMT)	XP_006718537.1:p.Asn121MetfsTer9
XM_011544847.1:c.362_371del (LRTOMT)	XP_011543149.1:p.Asn121MetfsTer9
XM_011544848.1:c.362_371del (LRTOMT)	XP_011543150.1:p.Asn121MetfsTer9
NM_001318803.1:c.362_371del (LRTOMT)	NP_001305732.1:p.Asn121MetfsTer9
NR_134858.1:n.835_844del (LRTOMT)
XM_006718473.4:c.362_371del (LRTOMT)	XP_006718536.1:p.Asn121MetfsTer9
XM_006718474.4:c.362_371del (LRTOMT)	XP_006718537.1:p.Asn121MetfsTer9
XM_011544847.3:c.362_371del (LRTOMT)	XP_011543149.1:p.Asn121MetfsTer9
XM_011544848.3:c.362_371del (LRTOMT)	XP_011543150.1:p.Asn121MetfsTer9
NM_001145307.5:c.362_371del (LRTOMT)	NP_001138779.1:p.Asn121MetfsTer9
NM_001145308.5:c.-42_-33del (LRTOMT)	NP_001138780.1:n.-42_-33del
NM_001145309.4:c.-42_-33del (LRTOMT)	NP_001138781.1:n.-42_-33del
NM_001145310.4:c.-42_-33del (LRTOMT)	NP_001138782.1:n.-42_-33del
NM_001205138.4:c.308_317del (LRTOMT)	NP_001192067.1:p.Asn103MetfsTer9
NM_001271471.3:c.362_371del (LRTOMT)	NP_001258400.1:p.Asn121MetfsTer9
NM_001318803.2:c.362_371del (LRTOMT)	NP_001305732.1:p.Asn121MetfsTer9
NM_145309.6:c.362_371del (LRTOMT) MANE Select	NP_660352.1:p.Asn121MetfsTer9
NR_026886.4:n.717_726del (LRTOMT)