Canonical Allele Identifier: CA1172326229
Gene: LEPR HGNC NCBI

Linked Data

dbSNP Id: rs1648406992
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.65500775del , CM000663.2:g.65500775del GRCh38
NC_000001.10:g.65966458del , CM000663.1:g.65966458del GRCh37
NC_000001.9:g.65739046del NCBI36
NG_015831.2:g.85211del , LRG_283:g.85211del

Transcript Alleles

HGVS Amino-acid change
ENST00000349533.11:c.-20-64771del MANE Select ENSP00000330393.7:n.-20-64771del
ENST00000349533.10:c.-20-64771del ENSP00000330393.6:n.-20-64771del
ENST00000371059.7:c.-20-64771del ENSP00000360098.3:n.-20-64771del
ENST00000371060.7:c.-20-64771del ENSP00000360099.3:n.-20-64771del
ENST00000406510.7:c.-640-64771del ENSP00000384025.3:n.-640-64771del
NM_001003679.3:c.-20-64771del , LRG_283t1:c.-20-64771del NP_001003679.1:n.-20-64771del
NM_001003680.3:c.-20-64771del , LRG_283t2:c.-20-64771del NP_001003680.1:n.-20-64771del
NM_002303.5:c.-20-64771del , LRG_283t3:c.-20-64771del NP_002294.2:n.-20-64771del
NM_002303.6:c.-20-64771del MANE Select NP_002294.2:n.-20-64771del
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