Canonical Allele Identifier: CA166743467

Gene: LEP

Linked Data

• dbSNP Id: rs1045135708
• MyVariant Identifiers: chr7:g.127886991_127887012del (hg19) ; chr7:g.128246938_128246959del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128246939_128246960del , CM000669.2:g.128246939_128246960del	GRCh38
NC_000007.13:g.127886992_127887013del , CM000669.1:g.127886992_127887013del	GRCh37
NC_000007.12:g.127674228_127674249del	NCBI36
NG_007450.1:g.10662_10683del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308868.5:c.-28-5052_-28-5031del MANE Select	ENSP00000312652.4:n.-28-5052_-28-5031del
ENST00000308868.4:c.-28-5052_-28-5031del	ENSP00000312652.4:n.-28-5052_-28-5031del
NM_000230.2:c.-28-5052_-28-5031del	NP_000221.1:n.-28-5052_-28-5031del
XM_005250340.3:c.-28-5052_-28-5031del	XP_005250397.1:n.-28-5052_-28-5031del
XM_005250340.5:c.-28-5052_-28-5031del	XP_005250397.1:n.-28-5052_-28-5031del
NM_000230.3:c.-28-5052_-28-5031del MANE Select	NP_000221.1:n.-28-5052_-28-5031del