Canonical Allele Identifier: CA2580081459
Gene: RET HGNC NCBI

Linked Data

ClinVar Variation Id: 1782209
ClinVar RCV Id: RCV002408164

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.43114499_43114500delinsAA , CM000672.2:g.43114499_43114500delinsAA GRCh38
NC_000010.10:g.43609947_43609948delinsAA , CM000672.1:g.43609947_43609948delinsAA GRCh37
NC_000010.9:g.42929953_42929954delinsAA NCBI36
NG_007489.1:g.42431_42432delinsAA , LRG_518:g.42431_42432delinsAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000615310.5:c.1503_1504delinsAA ENSP00000480088.2:p.Cys502Ser
ENST00000683007.1:n.1473_1474delinsAA
ENST00000683872.1:n.1464_1465delinsAA
ENST00000340058.6:c.1899_1900delinsAA ENSP00000344798.4:p.Cys634Ser
ENST00000355710.8:c.1899_1900delinsAA MANE Select ENSP00000347942.3:p.Cys634Ser
ENST00000671844.1:c.*493_*494delinsAA ENSP00000500541.1:n.*493_*494delinsAA
ENST00000672389.1:c.*493_*494delinsAA ENSP00000500252.1:n.*493_*494delinsAA
ENST00000340058.5:c.1899_1900delinsAA ENSP00000344798.4:p.Cys634Ser
ENST00000355710.7:c.1899_1900delinsAA ENSP00000347942.3:p.Cys634Ser
ENST00000498820.5:c.450_451delinsAA ENSP00000419080.1:p.Cys151Ser
ENST00000615310.4:c.1289+3267_1289+3268delinsAA ENSP00000480088.1:n.1289+3267_1289+3268delinsAA
NM_020630.4:c.1899_1900delinsAA , LRG_518t2:c.1899_1900delinsAA NP_065681.1:p.Cys634Ser
NM_020975.4:c.1899_1900delinsAA , LRG_518t1:c.1899_1900delinsAA NP_066124.1:p.Cys634Ser
XM_011540027.1:c.1899_1900delinsAA XP_011538329.1:p.Cys634Ser
NM_001355216.1:c.1137_1138delinsAA NP_001342145.1:p.Cys380Ser
NM_020630.5:c.1899_1900delinsAA NP_065681.1:p.Cys634Ser
NM_020975.5:c.1899_1900delinsAA NP_066124.1:p.Cys634Ser
NM_020975.6:c.1899_1900delinsAA MANE Select NP_066124.1:p.Cys634Ser
NM_020630.6:c.1899_1900delinsAA NP_065681.1:p.Cys634Ser