Canonical Allele Identifier: CA23922327
Gene: LEPR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.65618332_65618333insC , CM000663.2:g.65618332_65618333insC GRCh38
NC_000001.10:g.66084015_66084016insC , CM000663.1:g.66084015_66084016insC GRCh37
NC_000001.9:g.65856603_65856604insC NCBI36
NG_015831.2:g.202768_202769insC , LRG_283:g.202768_202769insC

Transcript Alleles

HGVS Amino-acid Change
NM_002303.6:c.2395+186_2395+187insC MANE Select NP_002294.2:n.2395+186_2395+187insC
ENST00000349533.11:c.2395+186_2395+187insC MANE Select ENSP00000330393.7:n.2395+186_2395+187insC
NM_001003679.3:c.2395+186_2395+187insC , LRG_283t1:c.2395+186_2395+187insC NP_001003679.1:n.2395+186_2395+187insC
NM_001003680.3:c.2395+186_2395+187insC , LRG_283t2:c.2395+186_2395+187insC NP_001003680.1:n.2395+186_2395+187insC
NM_001198687.1:c.2395+186_2395+187insC NP_001185616.1:n.2395+186_2395+187insC
NM_001198687.2:c.2395+186_2395+187insC NP_001185616.1:n.2395+186_2395+187insC
NM_001198688.1:c.2395+186_2395+187insC , LRG_283t4:c.2395+186_2395+187insC NP_001185617.1:n.2395+186_2395+187insC
NM_001198689.1:c.2395+186_2395+187insC NP_001185618.1:n.2395+186_2395+187insC
NM_001198689.2:c.2395+186_2395+187insC NP_001185618.1:n.2395+186_2395+187insC
NM_002303.5:c.2395+186_2395+187insC , LRG_283t3:c.2395+186_2395+187insC NP_002294.2:n.2395+186_2395+187insC
ENST00000344610.12:c.2395+186_2395+187insC ENSP00000340884.8:n.2395+186_2395+187insC
ENST00000349533.10:c.2395+186_2395+187insC ENSP00000330393.6:n.2395+186_2395+187insC
ENST00000371058.1:c.2395+186_2395+187insC ENSP00000360097.1:n.2395+186_2395+187insC
ENST00000371059.7:c.2395+186_2395+187insC ENSP00000360098.3:n.2395+186_2395+187insC
ENST00000371060.7:c.2395+186_2395+187insC ENSP00000360099.3:n.2395+186_2395+187insC
ENST00000406510.7:c.-126-17859_-126-17858insC ENSP00000384025.3:n.-126-17859_-126-17858insC
ENST00000616738.4:c.2395+186_2395+187insC ENSP00000483390.1:n.2395+186_2395+187insC