Canonical Allele Identifier: CA592898085
Community Standard Title: NM_020975.6(RET):c.3217_3218dup (p.Ser1073ArgfsTer?)
Gene: RET HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.43128141_43128142dup , CM000672.2:g.43128141_43128142dup GRCh38
NC_000010.10:g.43623589_43623590dup , CM000672.1:g.43623589_43623590dup GRCh37
NC_000010.9:g.42943595_42943596dup NCBI36
NG_007489.1:g.56073_56074dup , LRG_518:g.56073_56074dup

Transcript Alleles

HGVS Amino-acid Change
NM_020975.6:c.3217_3218dup MANE Select NP_066124.1:p.Ser1073ArgfsTer?
ENST00000355710.8:c.3217_3218dup MANE Select ENSP00000347942.3:p.Ser1073ArgfsTer?
NM_020975.4:c.3217_3218dup , LRG_518t1:c.3217_3218dup NP_066124.1:p.Ser1073ArgfsTer?
NM_020975.5:c.3217_3218dup NP_066124.1:p.Ser1073ArgfsTer?
ENST00000355710.7:c.3217_3218dup ENSP00000347942.3:p.Ser1073ArgfsTer?
ENST00000615310.4:c.*566_*567dup ENSP00000480088.1:n.*566_*567dup
ENST00000615310.5:c.*1387_*1388dup ENSP00000480088.2:n.*1387_*1388dup
ENST00000683007.1:n.4180_4181dup
XM_011540027.1:c.3217_3218dup XP_011538329.1:p.Ser1073ArgfsTer?