Canonical Allele Identifier: CA2580615459

Gene: RET

Linked Data

• ClinVar Variation Id: 1445581
• ClinVar RCV Id: RCV001985125 ; RCV002407152
• dbSNP Id: rs377767399
• gnomAD v4: 10-43113635-T-TGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43113642_43113644dup , CM000672.2:g.43113642_43113644dup	GRCh38
NC_000010.10:g.43609090_43609092dup , CM000672.1:g.43609090_43609092dup	GRCh37
NC_000010.9:g.42929096_42929098dup	NCBI36
NG_007489.1:g.41574_41576dup , LRG_518:g.41574_41576dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000615310.5:c.1450_1452dup	ENSP00000480088.2:p.Glu484_Lys485insGlu
ENST00000683007.1:n.1420_1422dup
ENST00000683872.1:n.607_609dup
ENST00000340058.6:c.1846_1848dup	ENSP00000344798.4:p.Glu616_Lys617insGlu
ENST00000355710.8:c.1846_1848dup MANE Select	ENSP00000347942.3:p.Glu616_Lys617insGlu
ENST00000671844.1:c.*440_*442dup	ENSP00000500541.1:n.*440_*442dup
ENST00000672389.1:c.*440_*442dup	ENSP00000500252.1:n.*440_*442dup
ENST00000340058.5:c.1846_1848dup	ENSP00000344798.4:p.Glu616_Lys617insGlu
ENST00000355710.7:c.1846_1848dup	ENSP00000347942.3:p.Glu616_Lys617insGlu
ENST00000498820.5:c.397_399dup	ENSP00000419080.1:p.Glu133_Lys134insGlu
ENST00000615310.4:c.1289+2410_1289+2412dup	ENSP00000480088.1:n.1289+2410_1289+2412du...
NM_020630.4:c.1846_1848dup , LRG_518t2:c.1846_1848dup	NP_065681.1:p.Glu616_Lys617insGlu
NM_020975.4:c.1846_1848dup , LRG_518t1:c.1846_1848dup	NP_066124.1:p.Glu616_Lys617insGlu
XM_011540027.1:c.1846_1848dup	XP_011538329.1:p.Glu616_Lys617insGlu
NM_001355216.1:c.1084_1086dup	NP_001342145.1:p.Glu362_Lys363insGlu
NM_020630.5:c.1846_1848dup	NP_065681.1:p.Glu616_Lys617insGlu
NM_020975.5:c.1846_1848dup	NP_066124.1:p.Glu616_Lys617insGlu
NM_020975.6:c.1846_1848dup MANE Select	NP_066124.1:p.Glu616_Lys617insGlu
NM_020630.6:c.1846_1848dup	NP_065681.1:p.Glu616_Lys617insGlu