Canonical Allele Identifier: CA523587852

Gene: LEPR

Linked Data

• dbSNP Id: rs1457298298
• gnomAD v2: 1-66075946-G-GA
• gnomAD v4: 1-65610263-G-GA
• MyVariant Identifiers: chr1:g.66075946_66075947insA (hg19) ; chr1:g.65610263_65610264insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.65610268dup , CM000663.2:g.65610268dup	GRCh38
NC_000001.10:g.66075951dup , CM000663.1:g.66075951dup	GRCh37
NC_000001.9:g.65848539dup	NCBI36
NG_015831.2:g.194704dup , LRG_283:g.194704dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349533.11:c.1967dup MANE Select	ENSP00000330393.7:p.Glu657GlyfsTer15
ENST00000344610.12:c.1967dup	ENSP00000340884.8:p.Glu657GlyfsTer15
ENST00000349533.10:c.1967dup	ENSP00000330393.6:p.Glu657GlyfsTer15
ENST00000371058.1:c.1967dup	ENSP00000360097.1:p.Glu657GlyfsTer15
ENST00000371059.7:c.1967dup	ENSP00000360098.3:p.Glu657GlyfsTer15
ENST00000371060.7:c.1967dup	ENSP00000360099.3:p.Glu657GlyfsTer15
ENST00000406510.7:c.-126-25923dup	ENSP00000384025.3:n.-126-25923dup
ENST00000616738.4:c.1967dup	ENSP00000483390.1:p.Glu657GlyfsTer15
NM_001003679.3:c.1967dup , LRG_283t1:c.1967dup	NP_001003679.1:p.Glu657GlyfsTer15
NM_001003680.3:c.1967dup , LRG_283t2:c.1967dup	NP_001003680.1:p.Glu657GlyfsTer15
NM_001198687.1:c.1967dup	NP_001185616.1:p.Glu657GlyfsTer15
NM_001198688.1:c.1967dup , LRG_283t4:c.1967dup	NP_001185617.1:p.Glu657GlyfsTer15
NM_001198689.1:c.1967dup	NP_001185618.1:p.Glu657GlyfsTer15
NM_002303.5:c.1967dup , LRG_283t3:c.1967dup	NP_002294.2:p.Glu657GlyfsTer15
NM_001198687.2:c.1967dup	NP_001185616.1:p.Glu657GlyfsTer15
NM_002303.6:c.1967dup MANE Select	NP_002294.2:p.Glu657GlyfsTer15
NM_001198689.2:c.1967dup	NP_001185618.1:p.Glu657GlyfsTer15