Canonical Allele Identifier: CA737919119

Gene: LEPR

Linked Data

• dbSNP Id: rs1375103186
• gnomAD v4: 1-65570910-TTA-T
• MyVariant Identifiers: chr1:g.66036594_66036595del (hg19) ; chr1:g.65570911_65570912del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.65570914_65570915del , CM000663.2:g.65570914_65570915del	GRCh38
NC_000001.10:g.66036597_66036598del , CM000663.1:g.66036597_66036598del	GRCh37
NC_000001.9:g.65809185_65809186del	NCBI36
NG_015831.2:g.155350_155351del , LRG_283:g.155350_155351del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349533.11:c.370+112_370+113del MANE Select	ENSP00000330393.7:n.370+112_370+113del
ENST00000344610.12:c.370+112_370+113del	ENSP00000340884.8:n.370+112_370+113del
ENST00000349533.10:c.370+112_370+113del	ENSP00000330393.6:n.370+112_370+113del
ENST00000371058.1:c.370+112_370+113del	ENSP00000360097.1:n.370+112_370+113del
ENST00000371059.7:c.370+112_370+113del	ENSP00000360098.3:n.370+112_370+113del
ENST00000371060.7:c.370+112_370+113del	ENSP00000360099.3:n.370+112_370+113del
ENST00000406510.7:c.-251+112_-251+113del	ENSP00000384025.3:n.-251+112_-251+113del
ENST00000462765.5:n.520+112_520+113del
ENST00000616738.4:c.370+112_370+113del	ENSP00000483390.1:n.370+112_370+113del
NM_001003679.3:c.370+112_370+113del , LRG_283t1:c.370+112_370+113del	NP_001003679.1:n.370+112_370+113del
NM_001003680.3:c.370+112_370+113del , LRG_283t2:c.370+112_370+113del	NP_001003680.1:n.370+112_370+113del
NM_001198687.1:c.370+112_370+113del	NP_001185616.1:n.370+112_370+113del
NM_001198688.1:c.370+112_370+113del , LRG_283t4:c.370+112_370+113del	NP_001185617.1:n.370+112_370+113del
NM_001198689.1:c.370+112_370+113del	NP_001185618.1:n.370+112_370+113del
NM_002303.5:c.370+112_370+113del , LRG_283t3:c.370+112_370+113del	NP_002294.2:n.370+112_370+113del
NM_001198687.2:c.370+112_370+113del	NP_001185616.1:n.370+112_370+113del
NM_002303.6:c.370+112_370+113del MANE Select	NP_002294.2:n.370+112_370+113del
NM_001198689.2:c.370+112_370+113del	NP_001185618.1:n.370+112_370+113del