Canonical Allele Identifier: CA23919810
Community Standard Title: NM_002303.6(LEPR):c.495-125dup
Gene: LEPR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.65592532dup , CM000663.2:g.65592532dup GRCh38
NC_000001.10:g.66058215dup , CM000663.1:g.66058215dup GRCh37
NC_000001.9:g.65830803dup NCBI36
NG_015831.2:g.176968dup , LRG_283:g.176968dup

Transcript Alleles

HGVS Amino-acid Change
NM_002303.6:c.495-125dup MANE Select NP_002294.2:n.495-125dup
ENST00000349533.11:c.495-125dup MANE Select ENSP00000330393.7:n.495-125dup
NM_001003679.3:c.495-125dup , LRG_283t1:c.495-125dup NP_001003679.1:n.495-125dup
NM_001003680.3:c.495-125dup , LRG_283t2:c.495-125dup NP_001003680.1:n.495-125dup
NM_001198687.1:c.495-125dup NP_001185616.1:n.495-125dup
NM_001198687.2:c.495-125dup NP_001185616.1:n.495-125dup
NM_001198688.1:c.495-125dup , LRG_283t4:c.495-125dup NP_001185617.1:n.495-125dup
NM_001198689.1:c.495-125dup NP_001185618.1:n.495-125dup
NM_001198689.2:c.495-125dup NP_001185618.1:n.495-125dup
NM_002303.5:c.495-125dup , LRG_283t3:c.495-125dup NP_002294.2:n.495-125dup
ENST00000344610.12:c.495-125dup ENSP00000340884.8:n.495-125dup
ENST00000349533.10:c.495-125dup ENSP00000330393.6:n.495-125dup
ENST00000371058.1:c.495-125dup ENSP00000360097.1:n.495-125dup
ENST00000371059.7:c.495-125dup ENSP00000360098.3:n.495-125dup
ENST00000371060.7:c.495-125dup ENSP00000360099.3:n.495-125dup
ENST00000406510.7:c.-127+20083dup ENSP00000384025.3:n.-127+20083dup
ENST00000462765.5:n.645-125dup
ENST00000616738.4:c.495-125dup ENSP00000483390.1:n.495-125dup