Canonical Allele Identifier: CA833092078

Gene: LEP

Linked Data

• dbSNP Id: rs1304484192
• MyVariant Identifiers: chr7:g.127887325_127887326insTCTCTGAGCTCAGACTTCC (hg19) ; chr7:g.128247272_128247273insTCTCTGAGCTCAGACTTCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128247273_128247291dup , CM000669.2:g.128247273_128247291dup	GRCh38
NC_000007.13:g.127887326_127887344dup , CM000669.1:g.127887326_127887344dup	GRCh37
NC_000007.12:g.127674562_127674580dup	NCBI36
NG_007450.1:g.10996_11014dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308868.5:c.-28-4718_-28-4700dup MANE Select	ENSP00000312652.4:n.-28-4718_-28-4700dup
ENST00000308868.4:c.-28-4718_-28-4700dup	ENSP00000312652.4:n.-28-4718_-28-4700dup
NM_000230.2:c.-28-4718_-28-4700dup	NP_000221.1:n.-28-4718_-28-4700dup
XM_005250340.3:c.-28-4718_-28-4700dup	XP_005250397.1:n.-28-4718_-28-4700dup
XM_005250340.5:c.-28-4718_-28-4700dup	XP_005250397.1:n.-28-4718_-28-4700dup
NM_000230.3:c.-28-4718_-28-4700dup MANE Select	NP_000221.1:n.-28-4718_-28-4700dup