Canonical Allele Identifier: CA523592069

Gene: LEPR

Linked Data

• dbSNP Id: rs748592524
• gnomAD v2: 1-66088677-A-AT
• gnomAD v3: 1-65622994-A-AT
• gnomAD v4: 1-65622994-A-AT
• COSMIC: COSN23014413
• MyVariant Identifiers: chr1:g.66088678_66088679insT (hg19) ; chr1:g.66088677_66088678insT (hg19) ; chr1:g.65622995_65622996insT (hg38) ; chr1:g.65622994_65622995insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.65623002dup , CM000663.2:g.65623002dup	GRCh38
NC_000001.10:g.66088685dup , CM000663.1:g.66088685dup	GRCh37
NC_000001.9:g.65861273dup	NCBI36
NG_015831.2:g.207438dup , LRG_283:g.207438dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349533.11:c.2673+21dup MANE Select	ENSP00000330393.7:n.2673+21dup
ENST00000344610.12:c.2673+21dup	ENSP00000340884.8:n.2673+21dup
ENST00000349533.10:c.2673+21dup	ENSP00000330393.6:n.2673+21dup
ENST00000371058.1:c.2673+21dup	ENSP00000360097.1:n.2673+21dup
ENST00000371059.7:c.2673+21dup	ENSP00000360098.3:n.2673+21dup
ENST00000371060.7:c.2673+21dup	ENSP00000360099.3:n.2673+21dup
ENST00000406510.7:c.-126-13189dup	ENSP00000384025.3:n.-126-13189dup
ENST00000471762.1:n.287dup
ENST00000616738.4:c.2673+21dup	ENSP00000483390.1:n.2673+21dup
NM_001003679.3:c.2673+21dup , LRG_283t1:c.2673+21dup	NP_001003679.1:n.2673+21dup
NM_001003680.3:c.2673+21dup , LRG_283t2:c.2673+21dup	NP_001003680.1:n.2673+21dup
NM_001198687.1:c.2673+21dup	NP_001185616.1:n.2673+21dup
NM_001198688.1:c.2673+21dup , LRG_283t4:c.2673+21dup	NP_001185617.1:n.2673+21dup
NM_001198689.1:c.2673+21dup	NP_001185618.1:n.2673+21dup
NM_002303.5:c.2673+21dup , LRG_283t3:c.2673+21dup	NP_002294.2:n.2673+21dup
NM_001198687.2:c.2673+21dup	NP_001185616.1:n.2673+21dup
NM_002303.6:c.2673+21dup MANE Select	NP_002294.2:n.2673+21dup
NM_001198689.2:c.2673+21dup	NP_001185618.1:n.2673+21dup