Canonical Allele Identifier: CA1002626960

Gene: LEPR

Linked Data

• dbSNP Id: rs532989803
• gnomAD v3: 1-65570996-G-GTATCCCAAAAAAAT
• gnomAD v4: 1-65570996-G-GTATCCCAAAAAAAT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.65570996_65570997insTATCCCAAAAAAAT , CM000663.2:g.65570996_65570997insTATCCCAAAAAAAT	GRCh38
NC_000001.10:g.66036679_66036680insTATCCCAAAAAAAT , CM000663.1:g.66036679_66036680insTATCCCAAAAAAAT	GRCh37
NC_000001.9:g.65809267_65809268insTATCCCAAAAAAAT	NCBI36
NG_015831.2:g.155432_155433insTATCCCAAAAAAAT , LRG_283:g.155432_155433insTATCCCAAAAAAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349533.11:c.370+194_370+195insTATCCCAAAAAAAT MANE Select	ENSP00000330393.7:n.370+194_370+195insTATCCCAAAAAAAT
ENST00000344610.12:c.370+194_370+195insTATCCCAAAAAAAT	ENSP00000340884.8:n.370+194_370+195insTATCCCAAAAAAAT
ENST00000349533.10:c.370+194_370+195insTATCCCAAAAAAAT	ENSP00000330393.6:n.370+194_370+195insTATCCCAAAAAAAT
ENST00000371058.1:c.370+194_370+195insTATCCCAAAAAAAT	ENSP00000360097.1:n.370+194_370+195insTATCCCAAAAAAAT
ENST00000371059.7:c.370+194_370+195insTATCCCAAAAAAAT	ENSP00000360098.3:n.370+194_370+195insTATCCCAAAAAAAT
ENST00000371060.7:c.370+194_370+195insTATCCCAAAAAAAT	ENSP00000360099.3:n.370+194_370+195insTATCCCAAAAAAAT
ENST00000406510.7:c.-251+194_-251+195insTATCCCAAAAAAAT	ENSP00000384025.3:n.-251+194_-251+195insTATCCCAAAAAAAT
ENST00000462765.5:n.520+194_520+195insTATCCCAAAAAAAT
ENST00000616738.4:c.370+194_370+195insTATCCCAAAAAAAT	ENSP00000483390.1:n.370+194_370+195insTATCCCAAAAAAAT
NM_001003679.3:c.370+194_370+195insTATCCCAAAAAAAT , LRG_283t1:c.370+194_370+195insTATCCCAAAAAAAT	NP_001003679.1:n.370+194_370+195insTATCCCAAAAAAAT
NM_001003680.3:c.370+194_370+195insTATCCCAAAAAAAT , LRG_283t2:c.370+194_370+195insTATCCCAAAAAAAT	NP_001003680.1:n.370+194_370+195insTATCCCAAAAAAAT
NM_001198687.1:c.370+194_370+195insTATCCCAAAAAAAT	NP_001185616.1:n.370+194_370+195insTATCCCAAAAAAAT
NM_001198688.1:c.370+194_370+195insTATCCCAAAAAAAT , LRG_283t4:c.370+194_370+195insTATCCCAAAAAAAT	NP_001185617.1:n.370+194_370+195insTATCCCAAAAAAAT
NM_001198689.1:c.370+194_370+195insTATCCCAAAAAAAT	NP_001185618.1:n.370+194_370+195insTATCCCAAAAAAAT
NM_002303.5:c.370+194_370+195insTATCCCAAAAAAAT , LRG_283t3:c.370+194_370+195insTATCCCAAAAAAAT	NP_002294.2:n.370+194_370+195insTATCCCAAAAAAAT
NM_001198687.2:c.370+194_370+195insTATCCCAAAAAAAT	NP_001185616.1:n.370+194_370+195insTATCCCAAAAAAAT
NM_002303.6:c.370+194_370+195insTATCCCAAAAAAAT MANE Select	NP_002294.2:n.370+194_370+195insTATCCCAAAAAAAT
NM_001198689.2:c.370+194_370+195insTATCCCAAAAAAAT	NP_001185618.1:n.370+194_370+195insTATCCCAAAAAAAT