Canonical Allele Identifier: CA224380554

Gene: LRRC51 NUMA1 LRTOMT

Linked Data

• dbSNP Id: rs911109306
• gnomAD v2: 11-71791696-GAAGGGGT-G
• gnomAD v3: 11-72080650-GAAGGGGT-G
• gnomAD v4: 11-72080650-GAAGGGGT-G
• MyVariant Identifiers: chr11:g.71791697_71791703del (hg19) ; chr11:g.72080651_72080657del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72080652_72080658del , CM000673.2:g.72080652_72080658del	GRCh38
NC_000011.9:g.71791698_71791704del , CM000673.1:g.71791698_71791704del	GRCh37
NC_000011.8:g.71469346_71469352del	NCBI36
NG_021423.1:g.5317_5323del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289488.7:c.-373_-367del (LRRC51)	ENSP00000289488.2:n.-373_-367del
ENST00000535883.6:c.-250_-244del (LRRC51)	ENSP00000437561.1:n.-250_-244del
ENST00000538413.6:c.-289_-283del (LRRC51)	ENSP00000438762.2:n.-289_-283del
ENST00000539271.6:c.-443_-437del (LRRC51)	ENSP00000442267.2:n.-443_-437del
ENST00000642648.1:c.-250_-244del (LRRC51)	ENSP00000494362.1:n.-250_-244del
ENST00000642813.1:n.87_93del (LRRC51)
ENST00000647530.1:c.-536_-530del (LRRC51)	ENSP00000494072.1:n.-536_-530del
ENST00000289488.6:c.-373_-367del (LRRC51)	ENSP00000289488.2:n.-373_-367del
ENST00000307198.11:c.-555_-549del (LRRC51)	ENSP00000305742.7:n.-555_-549del
ENST00000393695.7:c.-302_-296del (NUMA1)	ENSP00000377298.3:n.-302_-296del
ENST00000535883.5:c.-373_-367del (LRRC51)	ENSP00000437561.1:n.-373_-367del
ENST00000538413.5:c.-250_-244del (LRRC51)	ENSP00000438762.1:n.-250_-244del
ENST00000543450.1:n.37_43del (NUMA1)
ENST00000613205.4:c.-302_-296del (NUMA1)	ENSP00000480172.1:n.-302_-296del
NM_001145307.4:c.-373_-367del (LRTOMT)	NP_001138779.1:n.-373_-367del
NM_001145308.4:c.-555_-549del (LRTOMT)	NP_001138780.1:n.-555_-549del
NM_001145309.3:c.-776_-770del (LRTOMT)	NP_001138781.1:n.-776_-770del
NM_001145310.3:c.-776_-770del (LRTOMT)	NP_001138782.1:n.-776_-770del
NM_001205138.3:c.-290_-284del (LRTOMT)	NP_001192067.1:n.-290_-284del
NM_001271471.2:c.-373_-367del (LRTOMT)	NP_001258400.1:n.-373_-367del
NM_001286561.1:c.-400_-394del (NUMA1)	NP_001273490.1:n.-400_-394del
NM_006185.3:c.-302_-296del (NUMA1)	NP_006176.2:n.-302_-296del
NM_145309.5:c.-373_-367del (LRTOMT)	NP_660352.1:n.-373_-367del
NR_026886.3:n.322_328del (LRTOMT)
XM_011545055.1:c.-302_-296del (NUMA1)	XP_011543357.1:n.-302_-296del
NM_001318803.1:c.-330_-324del (LRTOMT)	NP_001305732.1:n.-330_-324del
NR_134858.1:n.322_328del (LRTOMT)
XM_006718474.4:c.-289_-283del (LRTOMT)	XP_006718537.1:n.-289_-283del
XM_011544848.3:c.-536_-530del (LRTOMT)	XP_011543150.1:n.-536_-530del