Canonical Allele Identifier: CA1742265077
Gene: LEP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128247268_128247269delinsCT , CM000669.2:g.128247268_128247269delinsCT GRCh38
NC_000007.13:g.127887321_127887322delinsCT , CM000669.1:g.127887321_127887322delinsCT GRCh37
NC_000007.12:g.127674557_127674558delinsCT NCBI36
NG_007450.1:g.10991_10992delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000308868.5:c.-28-4723_-28-4722delinsCT MANE Select ENSP00000312652.4:n.-28-4723_-28-4722delinsCT
ENST00000308868.4:c.-28-4723_-28-4722delinsCT ENSP00000312652.4:n.-28-4723_-28-4722delinsCT
NM_000230.2:c.-28-4723_-28-4722delinsCT NP_000221.1:n.-28-4723_-28-4722delinsCT
XM_005250340.3:c.-28-4723_-28-4722delinsCT XP_005250397.1:n.-28-4723_-28-4722delinsCT
XM_005250340.5:c.-28-4723_-28-4722delinsCT XP_005250397.1:n.-28-4723_-28-4722delinsCT
NM_000230.3:c.-28-4723_-28-4722delinsCT MANE Select NP_000221.1:n.-28-4723_-28-4722delinsCT