Canonical Allele Identifier: CA1172356488
Gene: LEPR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.65570345_65570349delinsACACT , CM000663.2:g.65570345_65570349delinsACACT GRCh38
NC_000001.10:g.66036028_66036032delinsACACT , CM000663.1:g.66036028_66036032delinsACACT GRCh37
NC_000001.9:g.65808616_65808620delinsACACT NCBI36
NG_015831.2:g.154781_154785delinsACACT , LRG_283:g.154781_154785delinsACACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000349533.11:c.41-128_41-124delinsACACT MANE Select ENSP00000330393.7:n.41-128_41-124delinsACACT
ENST00000344610.12:c.41-128_41-124delinsACACT ENSP00000340884.8:n.41-128_41-124delinsACACT
ENST00000349533.10:c.41-128_41-124delinsACACT ENSP00000330393.6:n.41-128_41-124delinsACACT
ENST00000371058.1:c.41-128_41-124delinsACACT ENSP00000360097.1:n.41-128_41-124delinsACACT
ENST00000371059.7:c.41-128_41-124delinsACACT ENSP00000360098.3:n.41-128_41-124delinsACACT
ENST00000371060.7:c.41-128_41-124delinsACACT ENSP00000360099.3:n.41-128_41-124delinsACACT
ENST00000406510.7:c.-580-128_-580-124delinsACACT ENSP00000384025.3:n.-580-128_-580-124delinsACACT
ENST00000462765.5:n.191-128_191-124delinsACACT
ENST00000616738.4:c.41-128_41-124delinsACACT ENSP00000483390.1:n.41-128_41-124delinsACACT
NM_001003679.3:c.41-128_41-124delinsACACT , LRG_283t1:c.41-128_41-124delinsACACT NP_001003679.1:n.41-128_41-124delinsACACT
NM_001003680.3:c.41-128_41-124delinsACACT , LRG_283t2:c.41-128_41-124delinsACACT NP_001003680.1:n.41-128_41-124delinsACACT
NM_001198687.1:c.41-128_41-124delinsACACT NP_001185616.1:n.41-128_41-124delinsACACT
NM_001198688.1:c.41-128_41-124delinsACACT , LRG_283t4:c.41-128_41-124delinsACACT NP_001185617.1:n.41-128_41-124delinsACACT
NM_001198689.1:c.41-128_41-124delinsACACT NP_001185618.1:n.41-128_41-124delinsACACT
NM_002303.5:c.41-128_41-124delinsACACT , LRG_283t3:c.41-128_41-124delinsACACT NP_002294.2:n.41-128_41-124delinsACACT
NM_001198687.2:c.41-128_41-124delinsACACT NP_001185616.1:n.41-128_41-124delinsACACT
NM_002303.6:c.41-128_41-124delinsACACT MANE Select NP_002294.2:n.41-128_41-124delinsACACT
NM_001198689.2:c.41-128_41-124delinsACACT NP_001185618.1:n.41-128_41-124delinsACACT