Canonical Allele Identifier: CA008182

Gene: RET

Linked Data

• ClinVar Variation Id: 549788
• ClinVar RCV Id: RCV000808356
• dbSNP Id: rs377767435
• MyVariant Identifiers: chr10:g.43609941_43609943del (hg19) ; chr10:g.43609939_43609941del (hg19) ; chr10:g.43114493_43114495del (hg38) ; chr10:g.43114491_43114493del (hg38)
• PubMed: PMID:1 ; PMID:303 ; PMID:318 ; PMID:792 ; PMID:845 ; PMID:900 ; PMID:17923033

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43114493_43114495del , CM000672.2:g.43114493_43114495del	GRCh38
NC_000010.10:g.43609941_43609943del , CM000672.1:g.43609941_43609943del	GRCh37
NC_000010.9:g.42929947_42929949del	NCBI36
NG_007489.1:g.42425_42427del , LRG_518:g.42425_42427del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615310.5:c.1497_1499del	ENSP00000480088.2:p.Asp499del
ENST00000683007.1:n.1467_1469del
ENST00000683872.1:n.1458_1460del
ENST00000340058.6:c.1893_1895del	ENSP00000344798.4:p.Asp631del
ENST00000355710.8:c.1893_1895del MANE Select	ENSP00000347942.3:p.Asp631del
ENST00000671844.1:c.*487_*489del	ENSP00000500541.1:n.*487_*489del
ENST00000672389.1:c.*487_*489del	ENSP00000500252.1:n.*487_*489del
ENST00000340058.5:c.1893_1895del	ENSP00000344798.4:p.Asp631del
ENST00000355710.7:c.1893_1895del	ENSP00000347942.3:p.Asp631del
ENST00000498820.5:c.444_446del	ENSP00000419080.1:p.Asp148del
ENST00000615310.4:c.1289+3261_1289+3263del	ENSP00000480088.1:n.1289+3261_1289+3263del
NM_020630.4:c.1893_1895del , LRG_518t2:c.1893_1895del	NP_065681.1:p.Asp631del
NM_020975.4:c.1893_1895del , LRG_518t1:c.1893_1895del	NP_066124.1:p.Asp631del
XM_011540027.1:c.1893_1895del	XP_011538329.1:p.Asp631del
NM_001355216.1:c.1131_1133del	NP_001342145.1:p.Asp377del
NM_020630.5:c.1893_1895del	NP_065681.1:p.Asp631del
NM_020975.5:c.1893_1895del	NP_066124.1:p.Asp631del
NM_020975.6:c.1893_1895del MANE Select	NP_066124.1:p.Asp631del
NM_020630.6:c.1893_1895del	NP_065681.1:p.Asp631del