Canonical Allele Identifier: CA2743933011
Gene: LEPR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.65610191_65610192insCCAAACACACCC , CM000663.2:g.65610191_65610192insCCAAACACACCC GRCh38
NC_000001.10:g.66075874_66075875insCCAAACACACCC , CM000663.1:g.66075874_66075875insCCAAACACACCC GRCh37
NC_000001.9:g.65848462_65848463insCCAAACACACCC NCBI36
NG_015831.2:g.194627_194628insCCAAACACACCC , LRG_283:g.194627_194628insCCAAACACACCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000349533.11:c.1913-23_1913-22insCCAAACACACCC MANE Select ENSP00000330393.7:n.1913-23_1913-22insCCAAACACACCC
ENST00000344610.12:c.1913-23_1913-22insCCAAACACACCC ENSP00000340884.8:n.1913-23_1913-22insCCAAACACACCC
ENST00000349533.10:c.1913-23_1913-22insCCAAACACACCC ENSP00000330393.6:n.1913-23_1913-22insCCAAACACACCC
ENST00000371058.1:c.1913-23_1913-22insCCAAACACACCC ENSP00000360097.1:n.1913-23_1913-22insCCAAACACACCC
ENST00000371059.7:c.1913-23_1913-22insCCAAACACACCC ENSP00000360098.3:n.1913-23_1913-22insCCAAACACACCC
ENST00000371060.7:c.1913-23_1913-22insCCAAACACACCC ENSP00000360099.3:n.1913-23_1913-22insCCAAACACACCC
ENST00000406510.7:c.-126-26000_-126-25999insCCAAACACACCC ENSP00000384025.3:n.-126-26000_-126-25999insCCAAACACACCC
ENST00000462765.5:n.2063-23_2063-22insCCAAACACACCC
ENST00000616738.4:c.1913-23_1913-22insCCAAACACACCC ENSP00000483390.1:n.1913-23_1913-22insCCAAACACACCC
NM_001003679.3:c.1913-23_1913-22insCCAAACACACCC , LRG_283t1:c.1913-23_1913-22insCCAAACACACCC NP_001003679.1:n.1913-23_1913-22insCCAAACACACCC
NM_001003680.3:c.1913-23_1913-22insCCAAACACACCC , LRG_283t2:c.1913-23_1913-22insCCAAACACACCC NP_001003680.1:n.1913-23_1913-22insCCAAACACACCC
NM_001198687.1:c.1913-23_1913-22insCCAAACACACCC NP_001185616.1:n.1913-23_1913-22insCCAAACACACCC
NM_001198688.1:c.1913-23_1913-22insCCAAACACACCC , LRG_283t4:c.1913-23_1913-22insCCAAACACACCC NP_001185617.1:n.1913-23_1913-22insCCAAACACACCC
NM_001198689.1:c.1913-23_1913-22insCCAAACACACCC NP_001185618.1:n.1913-23_1913-22insCCAAACACACCC
NM_002303.5:c.1913-23_1913-22insCCAAACACACCC , LRG_283t3:c.1913-23_1913-22insCCAAACACACCC NP_002294.2:n.1913-23_1913-22insCCAAACACACCC
NM_001198687.2:c.1913-23_1913-22insCCAAACACACCC NP_001185616.1:n.1913-23_1913-22insCCAAACACACCC
NM_002303.6:c.1913-23_1913-22insCCAAACACACCC MANE Select NP_002294.2:n.1913-23_1913-22insCCAAACACACCC
NM_001198689.2:c.1913-23_1913-22insCCAAACACACCC NP_001185618.1:n.1913-23_1913-22insCCAAACACACCC