Canonical Allele Identifier: CA2646077366

Gene: LEPR

Linked Data

• gnomAD v4: 1-65570485-T-TGATAACTGCGTTTAACTTGTCATATCCAATTACTCC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.65570486_65570521dup , CM000663.2:g.65570486_65570521dup	GRCh38
NC_000001.10:g.66036169_66036204dup , CM000663.1:g.66036169_66036204dup	GRCh37
NC_000001.9:g.65808757_65808792dup	NCBI36
NG_015831.2:g.154922_154957dup , LRG_283:g.154922_154957dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349533.11:c.54_89dup MANE Select	ENSP00000330393.7:p.Pro30_Trp31insIleThrAlaPheAsnLeuSerTyrPro...
ENST00000344610.12:c.54_89dup	ENSP00000340884.8:p.Pro30_Trp31insIleThrAlaPheAsnLeuSerTyrPro...
ENST00000349533.10:c.54_89dup	ENSP00000330393.6:p.Pro30_Trp31insIleThrAlaPheAsnLeuSerTyrPro...
ENST00000371058.1:c.54_89dup	ENSP00000360097.1:p.Pro30_Trp31insIleThrAlaPheAsnLeuSerTyrPro...
ENST00000371059.7:c.54_89dup	ENSP00000360098.3:p.Pro30_Trp31insIleThrAlaPheAsnLeuSerTyrPro...
ENST00000371060.7:c.54_89dup	ENSP00000360099.3:p.Pro30_Trp31insIleThrAlaPheAsnLeuSerTyrPro...
ENST00000406510.7:c.-567_-532dup	ENSP00000384025.3:n.-567_-532dup
ENST00000462765.5:n.204_239dup
ENST00000616738.4:c.54_89dup	ENSP00000483390.1:p.Pro30_Trp31insIleThrAlaPheAsnLeuSerTyrPro...
NM_001003679.3:c.54_89dup , LRG_283t1:c.54_89dup	NP_001003679.1:p.Pro30_Trp31insIleThrAlaPheAsnLeuSerTyrProIle...
NM_001003680.3:c.54_89dup , LRG_283t2:c.54_89dup	NP_001003680.1:p.Pro30_Trp31insIleThrAlaPheAsnLeuSerTyrProIle...
NM_001198687.1:c.54_89dup	NP_001185616.1:p.Pro30_Trp31insIleThrAlaPheAsnLeuSerTyrProIle...
NM_001198688.1:c.54_89dup , LRG_283t4:c.54_89dup	NP_001185617.1:p.Pro30_Trp31insIleThrAlaPheAsnLeuSerTyrProIle...
NM_001198689.1:c.54_89dup	NP_001185618.1:p.Pro30_Trp31insIleThrAlaPheAsnLeuSerTyrProIle...
NM_002303.5:c.54_89dup , LRG_283t3:c.54_89dup	NP_002294.2:p.Pro30_Trp31insIleThrAlaPheAsnLeuSerTyrProIleThr...
NM_001198687.2:c.54_89dup	NP_001185616.1:p.Pro30_Trp31insIleThrAlaPheAsnLeuSerTyrProIle...
NM_002303.6:c.54_89dup MANE Select	NP_002294.2:p.Pro30_Trp31insIleThrAlaPheAsnLeuSerTyrProIleThr...
NM_001198689.2:c.54_89dup	NP_001185618.1:p.Pro30_Trp31insIleThrAlaPheAsnLeuSerTyrProIle...