Canonical Allele Identifier: CA206262824
Gene: RET HGNC NCBI

Linked Data

ClinVar Variation Id: 986727
ClinVar RCV Id: RCV001267832
dbSNP Id: rs121913307
COSMIC: COSM983

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.43114493_43114498del , CM000672.2:g.43114493_43114498del GRCh38
NC_000010.10:g.43609941_43609946del , CM000672.1:g.43609941_43609946del GRCh37
NC_000010.9:g.42929947_42929952del NCBI36
NG_007489.1:g.42425_42430del , LRG_518:g.42425_42430del

Transcript Alleles

HGVS Amino-acid Change
ENST00000615310.5:c.1497_1502del ENSP00000480088.2:p.Asp499_Leu501delinsGlu
ENST00000683007.1:n.1467_1472del
ENST00000683872.1:n.1458_1463del
ENST00000340058.6:c.1893_1898del ENSP00000344798.4:p.Asp631_Leu633delinsGlu
ENST00000355710.8:c.1893_1898del MANE Select ENSP00000347942.3:p.Asp631_Leu633delinsGlu
ENST00000671844.1:c.*487_*492del ENSP00000500541.1:n.*487_*492del
ENST00000672389.1:c.*487_*492del ENSP00000500252.1:n.*487_*492del
ENST00000340058.5:c.1893_1898del ENSP00000344798.4:p.Asp631_Leu633delinsGlu
ENST00000355710.7:c.1893_1898del ENSP00000347942.3:p.Asp631_Leu633delinsGlu
ENST00000498820.5:c.444_449del ENSP00000419080.1:p.Asp148_Leu150delinsGlu
ENST00000615310.4:c.1289+3261_1289+3266del ENSP00000480088.1:n.1289+3261_1289+3266del
NM_020630.4:c.1893_1898del , LRG_518t2:c.1893_1898del NP_065681.1:p.Asp631_Leu633delinsGlu
NM_020975.4:c.1893_1898del , LRG_518t1:c.1893_1898del NP_066124.1:p.Asp631_Leu633delinsGlu
XM_011540027.1:c.1893_1898del XP_011538329.1:p.Asp631_Leu633delinsGlu
NM_001355216.1:c.1131_1136del NP_001342145.1:p.Asp377_Leu379delinsGlu
NM_020630.5:c.1893_1898del NP_065681.1:p.Asp631_Leu633delinsGlu
NM_020975.5:c.1893_1898del NP_066124.1:p.Asp631_Leu633delinsGlu
NM_020975.6:c.1893_1898del MANE Select NP_066124.1:p.Asp631_Leu633delinsGlu
NM_020630.6:c.1893_1898del NP_065681.1:p.Asp631_Leu633delinsGlu