Canonical Allele Identifier: CA523752954
Gene: LEPR HGNC NCBI

Linked Data

dbSNP Id: rs1315355752

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.65570482_65570483insACAGA , CM000663.2:g.65570482_65570483insACAGA GRCh38
NC_000001.10:g.66036165_66036166insACAGA , CM000663.1:g.66036165_66036166insACAGA GRCh37
NC_000001.9:g.65808753_65808754insACAGA NCBI36
NG_015831.2:g.154918_154919insACAGA , LRG_283:g.154918_154919insACAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000349533.11:c.50_51insACAGA MANE Select ENSP00000330393.7:p.Tyr17Ter
ENST00000344610.12:c.50_51insACAGA ENSP00000340884.8:p.Tyr17Ter
ENST00000349533.10:c.50_51insACAGA ENSP00000330393.6:p.Tyr17Ter
ENST00000371058.1:c.50_51insACAGA ENSP00000360097.1:p.Tyr17Ter
ENST00000371059.7:c.50_51insACAGA ENSP00000360098.3:p.Tyr17Ter
ENST00000371060.7:c.50_51insACAGA ENSP00000360099.3:p.Tyr17Ter
ENST00000406510.7:c.-571_-570insACAGA ENSP00000384025.3:n.-571_-570insACAGA
ENST00000462765.5:n.200_201insACAGA
ENST00000616738.4:c.50_51insACAGA ENSP00000483390.1:p.Tyr17Ter
NM_001003679.3:c.50_51insACAGA , LRG_283t1:c.50_51insACAGA NP_001003679.1:p.Tyr17Ter
NM_001003680.3:c.50_51insACAGA , LRG_283t2:c.50_51insACAGA NP_001003680.1:p.Tyr17Ter
NM_001198687.1:c.50_51insACAGA NP_001185616.1:p.Tyr17Ter
NM_001198688.1:c.50_51insACAGA , LRG_283t4:c.50_51insACAGA NP_001185617.1:p.Tyr17Ter
NM_001198689.1:c.50_51insACAGA NP_001185618.1:p.Tyr17Ter
NM_002303.5:c.50_51insACAGA , LRG_283t3:c.50_51insACAGA NP_002294.2:p.Tyr17Ter
NM_001198687.2:c.50_51insACAGA NP_001185616.1:p.Tyr17Ter
NM_002303.6:c.50_51insACAGA MANE Select NP_002294.2:p.Tyr17Ter
NM_001198689.2:c.50_51insACAGA NP_001185618.1:p.Tyr17Ter