Canonical Allele Identifier: CA2743939849

Gene: LEPR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.65570738_65570785dup , CM000663.2:g.65570738_65570785dup	GRCh38
NC_000001.10:g.66036421_66036468dup , CM000663.1:g.66036421_66036468dup	GRCh37
NC_000001.9:g.65809009_65809056dup	NCBI36
NG_015831.2:g.155174_155221dup , LRG_283:g.155174_155221dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000349533.11:c.306_353dup MANE Select	ENSP00000330393.7:p.Ser117_Leu118insPheAlaAspAsnIleGluGlyLysT...
ENST00000344610.12:c.306_353dup	ENSP00000340884.8:p.Ser117_Leu118insPheAlaAspAsnIleGluGlyLysT...
ENST00000349533.10:c.306_353dup	ENSP00000330393.6:p.Ser117_Leu118insPheAlaAspAsnIleGluGlyLysT...
ENST00000371058.1:c.306_353dup	ENSP00000360097.1:p.Ser117_Leu118insPheAlaAspAsnIleGluGlyLysT...
ENST00000371059.7:c.306_353dup	ENSP00000360098.3:p.Ser117_Leu118insPheAlaAspAsnIleGluGlyLysT...
ENST00000371060.7:c.306_353dup	ENSP00000360099.3:p.Ser117_Leu118insPheAlaAspAsnIleGluGlyLysT...
ENST00000406510.7:c.-315_-268dup	ENSP00000384025.3:n.-315_-268dup
ENST00000462765.5:n.456_503dup
ENST00000616738.4:c.306_353dup	ENSP00000483390.1:p.Ser117_Leu118insPheAlaAspAsnIleGluGlyLysT...
NM_001003679.3:c.306_353dup , LRG_283t1:c.306_353dup	NP_001003679.1:p.Ser117_Leu118insPheAlaAspAsnIleGluGlyLysThrP...
NM_001003680.3:c.306_353dup , LRG_283t2:c.306_353dup	NP_001003680.1:p.Ser117_Leu118insPheAlaAspAsnIleGluGlyLysThrP...
NM_001198687.1:c.306_353dup	NP_001185616.1:p.Ser117_Leu118insPheAlaAspAsnIleGluGlyLysThrP...
NM_001198688.1:c.306_353dup , LRG_283t4:c.306_353dup	NP_001185617.1:p.Ser117_Leu118insPheAlaAspAsnIleGluGlyLysThrP...
NM_001198689.1:c.306_353dup	NP_001185618.1:p.Ser117_Leu118insPheAlaAspAsnIleGluGlyLysThrP...
NM_002303.5:c.306_353dup , LRG_283t3:c.306_353dup	NP_002294.2:p.Ser117_Leu118insPheAlaAspAsnIleGluGlyLysThrPheV...
NM_001198687.2:c.306_353dup	NP_001185616.1:p.Ser117_Leu118insPheAlaAspAsnIleGluGlyLysThrP...
NM_002303.6:c.306_353dup MANE Select	NP_002294.2:p.Ser117_Leu118insPheAlaAspAsnIleGluGlyLysThrPheV...
NM_001198689.2:c.306_353dup	NP_001185618.1:p.Ser117_Leu118insPheAlaAspAsnIleGluGlyLysThrP...