Canonical Allele Identifier: CA1742266136
Gene: LEP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128248598_128248604delinsCAAAAAT , CM000669.2:g.128248598_128248604delinsCAAAAAT GRCh38
NC_000007.13:g.127888651_127888657delinsCAAAAAT , CM000669.1:g.127888651_127888657delinsCAAAAAT GRCh37
NC_000007.12:g.127675887_127675893delinsCAAAAAT NCBI36
NG_007450.1:g.12321_12327delinsCAAAAAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000308868.5:c.-28-3393_-28-3387delinsCAAAAAT MANE Select ENSP00000312652.4:n.-28-3393_-28-3387delinsCAAAAAT
ENST00000308868.4:c.-28-3393_-28-3387delinsCAAAAAT ENSP00000312652.4:n.-28-3393_-28-3387delinsCAAAAAT
NM_000230.2:c.-28-3393_-28-3387delinsCAAAAAT NP_000221.1:n.-28-3393_-28-3387delinsCAAAAAT
XM_005250340.3:c.-28-3393_-28-3387delinsCAAAAAT XP_005250397.1:n.-28-3393_-28-3387delinsCAAAAAT
XM_005250340.5:c.-28-3393_-28-3387delinsCAAAAAT XP_005250397.1:n.-28-3393_-28-3387delinsCAAAAAT
NM_000230.3:c.-28-3393_-28-3387delinsCAAAAAT MANE Select NP_000221.1:n.-28-3393_-28-3387delinsCAAAAAT