Canonical Allele Identifier: CA833092618

Gene: LEP

Linked Data

• dbSNP Id: rs1157319410
• MyVariant Identifiers: chr7:g.127888750_127888751del (hg19) ; chr7:g.128248697_128248698del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128248700_128248701del , CM000669.2:g.128248700_128248701del	GRCh38
NC_000007.13:g.127888753_127888754del , CM000669.1:g.127888753_127888754del	GRCh37
NC_000007.12:g.127675989_127675990del	NCBI36
NG_007450.1:g.12423_12424del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308868.5:c.-28-3291_-28-3290del MANE Select	ENSP00000312652.4:n.-28-3291_-28-3290del
ENST00000308868.4:c.-28-3291_-28-3290del	ENSP00000312652.4:n.-28-3291_-28-3290del
NM_000230.2:c.-28-3291_-28-3290del	NP_000221.1:n.-28-3291_-28-3290del
XM_005250340.3:c.-28-3291_-28-3290del	XP_005250397.1:n.-28-3291_-28-3290del
XM_005250340.5:c.-28-3291_-28-3290del	XP_005250397.1:n.-28-3291_-28-3290del
NM_000230.3:c.-28-3291_-28-3290del MANE Select	NP_000221.1:n.-28-3291_-28-3290del