Canonical Allele Identifier: CA23916911

Gene: LEPR

Linked Data

• dbSNP Id: rs1037170148
• gnomAD v2: 1-66075871-CAT-C
• gnomAD v3: 1-65610188-CAT-C
• gnomAD v4: 1-65610188-CAT-C
• MyVariant Identifiers: chr1:g.66075872_66075873del (hg19) ; chr1:g.65610190_65610191del (hg38) ; chr1:g.65610189_65610190del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.65610192_65610193del , CM000663.2:g.65610192_65610193del	GRCh38
NC_000001.10:g.66075875_66075876del , CM000663.1:g.66075875_66075876del	GRCh37
NC_000001.9:g.65848463_65848464del	NCBI36
NG_015831.2:g.194628_194629del , LRG_283:g.194628_194629del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349533.11:c.1913-22_1913-21del MANE Select	ENSP00000330393.7:n.1913-22_1913-21del
ENST00000344610.12:c.1913-22_1913-21del	ENSP00000340884.8:n.1913-22_1913-21del
ENST00000349533.10:c.1913-22_1913-21del	ENSP00000330393.6:n.1913-22_1913-21del
ENST00000371058.1:c.1913-22_1913-21del	ENSP00000360097.1:n.1913-22_1913-21del
ENST00000371059.7:c.1913-22_1913-21del	ENSP00000360098.3:n.1913-22_1913-21del
ENST00000371060.7:c.1913-22_1913-21del	ENSP00000360099.3:n.1913-22_1913-21del
ENST00000406510.7:c.-126-25999_-126-25998del	ENSP00000384025.3:n.-126-25999_-126-25998del
ENST00000462765.5:n.2063-22_2063-21del
ENST00000616738.4:c.1913-22_1913-21del	ENSP00000483390.1:n.1913-22_1913-21del
NM_001003679.3:c.1913-22_1913-21del , LRG_283t1:c.1913-22_1913-21del	NP_001003679.1:n.1913-22_1913-21del
NM_001003680.3:c.1913-22_1913-21del , LRG_283t2:c.1913-22_1913-21del	NP_001003680.1:n.1913-22_1913-21del
NM_001198687.1:c.1913-22_1913-21del	NP_001185616.1:n.1913-22_1913-21del
NM_001198688.1:c.1913-22_1913-21del , LRG_283t4:c.1913-22_1913-21del	NP_001185617.1:n.1913-22_1913-21del
NM_001198689.1:c.1913-22_1913-21del	NP_001185618.1:n.1913-22_1913-21del
NM_002303.5:c.1913-22_1913-21del , LRG_283t3:c.1913-22_1913-21del	NP_002294.2:n.1913-22_1913-21del
NM_001198687.2:c.1913-22_1913-21del	NP_001185616.1:n.1913-22_1913-21del
NM_002303.6:c.1913-22_1913-21del MANE Select	NP_002294.2:n.1913-22_1913-21del
NM_001198689.2:c.1913-22_1913-21del	NP_001185618.1:n.1913-22_1913-21del