Canonical Allele Identifier: CA3048998

Gene: LARP7

Linked Data

• dbSNP Id: rs775934837
• ExAC: 4:113567548 A / ATT
• gnomAD v2: 4-113567548-A-ATT
• gnomAD v4: 4-112646392-A-ATT
• MyVariant Identifiers: chr4:g.113567548_113567549insTT (hg19) ; chr4:g.112646392_112646393insTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.112646392_112646393insTT , CM000666.2:g.112646392_112646393insTT	GRCh38
NC_000004.11:g.113567548_113567549insTT , CM000666.1:g.113567548_113567549insTT	GRCh37
NC_000004.10:g.113786997_113786998insTT	NCBI36
NG_032779.1:g.14429_14430insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505034.6:c.244_245insTT	ENSP00000421541.2:p.Lys82IlefsTer3
ENST00000505216.2:c.*3_*4insTT	ENSP00000424116.1:n.*3_*4insTT
ENST00000694891.1:c.244_245insTT	ENSP00000511571.1:p.Lys82IlefsTer3
ENST00000694892.1:n.248_249insTT
ENST00000694893.1:n.337_338insTT
ENST00000694894.1:c.244_245insTT	ENSP00000511572.1:p.Lys82IlefsTer3
ENST00000694895.1:c.244_245insTT	ENSP00000511573.1:p.Lys82IlefsTer3
ENST00000694896.1:c.244_245insTT	ENSP00000511574.1:p.Lys82IlefsTer3
ENST00000694897.1:c.244_245insTT	ENSP00000511575.1:p.Lys82IlefsTer3
ENST00000694898.1:c.244_245insTT	ENSP00000511576.1:p.Lys82IlefsTer3
ENST00000694899.1:c.244_245insTT	ENSP00000511577.1:p.Lys82IlefsTer3
ENST00000694900.1:c.244_245insTT	ENSP00000511578.1:p.Lys82IlefsTer3
ENST00000694901.1:c.*3_*4insTT	ENSP00000511579.1:n.*3_*4insTT
ENST00000694902.1:n.765_766insTT
ENST00000511529.2:c.244_245insTT	ENSP00000426376.2:p.Lys82IlefsTer3
ENST00000512361.2:n.353_354insTT
ENST00000512589.6:c.*50_*51insTT	ENSP00000426709.1:n.*50_*51insTT
ENST00000684864.1:c.244_245insTT	ENSP00000509993.1:p.Lys82IlefsTer3
ENST00000688617.1:n.518_519insTT
ENST00000689262.1:n.1395_1396insTT
ENST00000689844.1:c.244_245insTT	ENSP00000509899.1:p.Lys82IlefsTer3
ENST00000690008.1:c.*3_*4insTT	ENSP00000508938.1:n.*3_*4insTT
ENST00000692075.1:n.409_410insTT
ENST00000692168.1:n.332_333insTT
ENST00000692416.1:c.7_8insTT	ENSP00000509527.1:p.Lys3IlefsTer3
ENST00000693375.1:c.7_8insTT	ENSP00000508585.1:p.Lys3IlefsTer3
ENST00000693442.1:c.244_245insTT	ENSP00000509975.1:p.Lys82IlefsTer3
ENST00000344442.10:c.244_245insTT MANE Select	ENSP00000344950.5:p.Lys82IlefsTer3
ENST00000651579.1:c.244_245insTT	ENSP00000499190.1:p.Lys82IlefsTer3
ENST00000324052.10:c.244_245insTT	ENSP00000314311.6:p.Lys82IlefsTer3
ENST00000344442.9:c.244_245insTT	ENSP00000344950.5:p.Lys82IlefsTer3
ENST00000505034.5:c.244_245insTT	ENSP00000421541.1:p.Lys82IlefsTer3
ENST00000505216.1:c.*3_*4insTT	ENSP00000424116.1:n.*3_*4insTT
ENST00000507443.1:c.244_245insTT	ENSP00000421963.1:p.Lys82IlefsTer3
ENST00000508577.5:c.244_245insTT	ENSP00000426646.1:p.Lys82IlefsTer3
ENST00000509061.5:c.265_266insTT	ENSP00000422626.1:p.Lys89IlefsTer3
ENST00000509622.5:c.*3_*4insTT	ENSP00000422451.1:n.*3_*4insTT
ENST00000512589.5:c.*50_*51insTT	ENSP00000426709.1:n.*50_*51insTT
ENST00000513553.5:c.31-1327_31-1326insTT	ENSP00000422013.1:n.31-1327_31-1326insTT
NM_001267039.1:c.265_266insTT	NP_001253968.1:p.Lys89IlefsTer3
NM_015454.2:c.244_245insTT	NP_056269.1:p.Lys82IlefsTer3
NM_016648.3:c.244_245insTT	NP_057732.2:p.Lys82IlefsTer3
NR_049768.1:n.419_420insTT
XM_024454080.1:c.244_245insTT	XP_024309848.1:p.Lys82IlefsTer3
XM_024454081.1:c.244_245insTT	XP_024309849.1:p.Lys82IlefsTer3
XM_024454082.1:c.244_245insTT	XP_024309850.1:p.Lys82IlefsTer3
XM_024454083.1:c.244_245insTT	XP_024309851.1:p.Lys82IlefsTer3
XM_024454084.1:c.244_245insTT	XP_024309852.1:p.Lys82IlefsTer3
XM_024454085.1:c.244_245insTT	XP_024309853.1:p.Lys82IlefsTer3
XM_024454086.1:c.7_8insTT	XP_024309854.1:p.Lys3IlefsTer3
XM_024454087.1:c.7_8insTT	XP_024309855.1:p.Lys3IlefsTer3
XM_024454088.1:c.7_8insTT	XP_024309856.1:p.Lys3IlefsTer3
XM_024454089.1:c.-693_-692insTT	XP_024309857.1:n.-693_-692insTT
NM_016648.4:c.244_245insTT MANE Select	NP_057732.2:p.Lys82IlefsTer3
NM_001370974.1:c.244_245insTT	NP_001357903.1:p.Lys82IlefsTer3
NM_001370975.1:c.244_245insTT	NP_001357904.1:p.Lys82IlefsTer3
NM_001370976.1:c.244_245insTT	NP_001357905.1:p.Lys82IlefsTer3
NM_001370977.1:c.244_245insTT	NP_001357906.1:p.Lys82IlefsTer3
NM_001370978.1:c.244_245insTT	NP_001357907.1:p.Lys82IlefsTer3
NM_001370979.1:c.244_245insTT	NP_001357908.1:p.Lys82IlefsTer3
NM_001370980.1:c.244_245insTT	NP_001357909.1:p.Lys82IlefsTer3
NM_001370981.1:c.7_8insTT	NP_001357910.1:p.Lys3IlefsTer3
NM_001370982.1:c.7_8insTT	NP_001357911.1:p.Lys3IlefsTer3
NM_001267039.2:c.265_266insTT	NP_001253968.1:p.Lys89IlefsTer3
NM_015454.3:c.244_245insTT	NP_056269.1:p.Lys82IlefsTer3
NM_001267039.4:c.244_245insTT	NP_001253968.2:p.Lys82IlefsTer3