Canonical Allele Identifier: CA1742264927
Gene: LEP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128247055_128247057delinsGAA , CM000669.2:g.128247055_128247057delinsGAA GRCh38
NC_000007.13:g.127887108_127887110delinsGAA , CM000669.1:g.127887108_127887110delinsGAA GRCh37
NC_000007.12:g.127674344_127674346delinsGAA NCBI36
NG_007450.1:g.10778_10780delinsGAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000308868.5:c.-28-4936_-28-4934delinsGAA MANE Select ENSP00000312652.4:n.-28-4936_-28-4934delinsGAA
ENST00000308868.4:c.-28-4936_-28-4934delinsGAA ENSP00000312652.4:n.-28-4936_-28-4934delinsGAA
NM_000230.2:c.-28-4936_-28-4934delinsGAA NP_000221.1:n.-28-4936_-28-4934delinsGAA
XM_005250340.3:c.-28-4936_-28-4934delinsGAA XP_005250397.1:n.-28-4936_-28-4934delinsGAA
XM_005250340.5:c.-28-4936_-28-4934delinsGAA XP_005250397.1:n.-28-4936_-28-4934delinsGAA
NM_000230.3:c.-28-4936_-28-4934delinsGAA MANE Select NP_000221.1:n.-28-4936_-28-4934delinsGAA