Canonical Allele Identifier: CA1172356749

Gene: LEPR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.65571045_65571046delinsGC , CM000663.2:g.65571045_65571046delinsGC	GRCh38
NC_000001.10:g.66036728_66036729delinsGC , CM000663.1:g.66036728_66036729delinsGC	GRCh37
NC_000001.9:g.65809316_65809317delinsGC	NCBI36
NG_015831.2:g.155481_155482delinsGC , LRG_283:g.155481_155482delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349533.11:c.370+243_370+244delinsGC MANE Select	ENSP00000330393.7:n.370+243_370+244delinsGC
ENST00000344610.12:c.370+243_370+244delinsGC	ENSP00000340884.8:n.370+243_370+244delinsGC
ENST00000349533.10:c.370+243_370+244delinsGC	ENSP00000330393.6:n.370+243_370+244delinsGC
ENST00000371058.1:c.370+243_370+244delinsGC	ENSP00000360097.1:n.370+243_370+244delinsGC
ENST00000371059.7:c.370+243_370+244delinsGC	ENSP00000360098.3:n.370+243_370+244delinsGC
ENST00000371060.7:c.370+243_370+244delinsGC	ENSP00000360099.3:n.370+243_370+244delinsGC
ENST00000406510.7:c.-251+243_-251+244delinsGC	ENSP00000384025.3:n.-251+243_-251+244delinsGC
ENST00000462765.5:n.520+243_520+244delinsGC
ENST00000616738.4:c.370+243_370+244delinsGC	ENSP00000483390.1:n.370+243_370+244delinsGC
NM_001003679.3:c.370+243_370+244delinsGC , LRG_283t1:c.370+243_370+244delinsGC	NP_001003679.1:n.370+243_370+244delinsGC
NM_001003680.3:c.370+243_370+244delinsGC , LRG_283t2:c.370+243_370+244delinsGC	NP_001003680.1:n.370+243_370+244delinsGC
NM_001198687.1:c.370+243_370+244delinsGC	NP_001185616.1:n.370+243_370+244delinsGC
NM_001198688.1:c.370+243_370+244delinsGC , LRG_283t4:c.370+243_370+244delinsGC	NP_001185617.1:n.370+243_370+244delinsGC
NM_001198689.1:c.370+243_370+244delinsGC	NP_001185618.1:n.370+243_370+244delinsGC
NM_002303.5:c.370+243_370+244delinsGC , LRG_283t3:c.370+243_370+244delinsGC	NP_002294.2:n.370+243_370+244delinsGC
NM_001198687.2:c.370+243_370+244delinsGC	NP_001185616.1:n.370+243_370+244delinsGC
NM_002303.6:c.370+243_370+244delinsGC MANE Select	NP_002294.2:n.370+243_370+244delinsGC
NM_001198689.2:c.370+243_370+244delinsGC	NP_001185618.1:n.370+243_370+244delinsGC