Canonical Allele Identifier: CA523752948

Gene: LEPR

Linked Data

• dbSNP Id: rs1195453764
• gnomAD v2: 1-66036115-ATGATTACT-A
• gnomAD v4: 1-65570432-ATGATTACT-A
• MyVariant Identifiers: chr1:g.66036116_66036123del (hg19) ; chr1:g.65570433_65570440del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.65570434_65570441del , CM000663.2:g.65570434_65570441del	GRCh38
NC_000001.10:g.66036117_66036124del , CM000663.1:g.66036117_66036124del	GRCh37
NC_000001.9:g.65808705_65808712del	NCBI36
NG_015831.2:g.154870_154877del , LRG_283:g.154870_154877del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349533.11:c.41-39_41-32del MANE Select	ENSP00000330393.7:n.41-39_41-32del
ENST00000344610.12:c.41-39_41-32del	ENSP00000340884.8:n.41-39_41-32del
ENST00000349533.10:c.41-39_41-32del	ENSP00000330393.6:n.41-39_41-32del
ENST00000371058.1:c.41-39_41-32del	ENSP00000360097.1:n.41-39_41-32del
ENST00000371059.7:c.41-39_41-32del	ENSP00000360098.3:n.41-39_41-32del
ENST00000371060.7:c.41-39_41-32del	ENSP00000360099.3:n.41-39_41-32del
ENST00000406510.7:c.-580-39_-580-32del	ENSP00000384025.3:n.-580-39_-580-32del
ENST00000462765.5:n.191-39_191-32del
ENST00000616738.4:c.41-39_41-32del	ENSP00000483390.1:n.41-39_41-32del
NM_001003679.3:c.41-39_41-32del , LRG_283t1:c.41-39_41-32del	NP_001003679.1:n.41-39_41-32del
NM_001003680.3:c.41-39_41-32del , LRG_283t2:c.41-39_41-32del	NP_001003680.1:n.41-39_41-32del
NM_001198687.1:c.41-39_41-32del	NP_001185616.1:n.41-39_41-32del
NM_001198688.1:c.41-39_41-32del , LRG_283t4:c.41-39_41-32del	NP_001185617.1:n.41-39_41-32del
NM_001198689.1:c.41-39_41-32del	NP_001185618.1:n.41-39_41-32del
NM_002303.5:c.41-39_41-32del , LRG_283t3:c.41-39_41-32del	NP_002294.2:n.41-39_41-32del
NM_001198687.2:c.41-39_41-32del	NP_001185616.1:n.41-39_41-32del
NM_002303.6:c.41-39_41-32del MANE Select	NP_002294.2:n.41-39_41-32del
NM_001198689.2:c.41-39_41-32del	NP_001185618.1:n.41-39_41-32del