Canonical Allele Identifier: CA833092106

Gene: LEP

Linked Data

• dbSNP Id: rs1424454656
• gnomAD v3: 7-128247317-TCAC-T
• gnomAD v4: 7-128247317-TCAC-T
• MyVariant Identifiers: chr7:g.127887371_127887373del (hg19) ; chr7:g.128247318_128247320del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128247320_128247322del , CM000669.2:g.128247320_128247322del	GRCh38
NC_000007.13:g.127887373_127887375del , CM000669.1:g.127887373_127887375del	GRCh37
NC_000007.12:g.127674609_127674611del	NCBI36
NG_007450.1:g.11043_11045del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308868.5:c.-28-4671_-28-4669del MANE Select	ENSP00000312652.4:n.-28-4671_-28-4669del
ENST00000308868.4:c.-28-4671_-28-4669del	ENSP00000312652.4:n.-28-4671_-28-4669del
NM_000230.2:c.-28-4671_-28-4669del	NP_000221.1:n.-28-4671_-28-4669del
XM_005250340.3:c.-28-4671_-28-4669del	XP_005250397.1:n.-28-4671_-28-4669del
XM_005250340.5:c.-28-4671_-28-4669del	XP_005250397.1:n.-28-4671_-28-4669del
NM_000230.3:c.-28-4671_-28-4669del MANE Select	NP_000221.1:n.-28-4671_-28-4669del