Canonical Allele Identifier: CA007965

Gene: RET

Linked Data

• ClinVar Variation Id: 24900
• ClinVar RCV Id: RCV000021790 ; RCV000570920 ; RCV001247073
• dbSNP Id: rs377767399
• ExAC: 10:43609083 TGAG / T
• gnomAD v2: 10-43609083-TGAG-T
• gnomAD v3: 10-43113635-TGAG-T
• gnomAD v4: 10-43113635-TGAG-T
• MyVariant Identifiers: chr10:g.43609090_43609092del (hg19) ; chr10:g.43609084_43609086del (hg19) ; chr10:g.43113642_43113644del (hg38) ; chr10:g.43113636_43113638del (hg38)
• PubMed: PMID:15858153

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43113642_43113644del , CM000672.2:g.43113642_43113644del	GRCh38
NC_000010.10:g.43609090_43609092del , CM000672.1:g.43609090_43609092del	GRCh37
NC_000010.9:g.42929096_42929098del	NCBI36
NG_007489.1:g.41574_41576del , LRG_518:g.41574_41576del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615310.5:c.1450_1452del	ENSP00000480088.2:p.Glu484del
ENST00000683007.1:n.1420_1422del
ENST00000683872.1:n.607_609del
ENST00000340058.6:c.1846_1848del	ENSP00000344798.4:p.Glu616del
ENST00000355710.8:c.1846_1848del MANE Select	ENSP00000347942.3:p.Glu616del
ENST00000671844.1:c.*440_*442del	ENSP00000500541.1:n.*440_*442del
ENST00000672389.1:c.*440_*442del	ENSP00000500252.1:n.*440_*442del
ENST00000340058.5:c.1846_1848del	ENSP00000344798.4:p.Glu616del
ENST00000355710.7:c.1846_1848del	ENSP00000347942.3:p.Glu616del
ENST00000498820.5:c.397_399del	ENSP00000419080.1:p.Glu133del
ENST00000615310.4:c.1289+2410_1289+2412del	ENSP00000480088.1:n.1289+2410_1289+2412del
NM_020630.4:c.1846_1848del , LRG_518t2:c.1846_1848del	NP_065681.1:p.Glu616del
NM_020975.4:c.1846_1848del , LRG_518t1:c.1846_1848del	NP_066124.1:p.Glu616del
XM_011540027.1:c.1846_1848del	XP_011538329.1:p.Glu616del
NM_001355216.1:c.1084_1086del	NP_001342145.1:p.Glu362del
NM_020630.5:c.1846_1848del	NP_065681.1:p.Glu616del
NM_020975.5:c.1846_1848del	NP_066124.1:p.Glu616del
NM_020975.6:c.1846_1848del MANE Select	NP_066124.1:p.Glu616del
NM_020630.6:c.1846_1848del	NP_065681.1:p.Glu616del