Canonical Allele Identifier: CA2802833488
Gene: RTL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100883279_100883292del , CM000676.2:g.100883279_100883292del GRCh38
NC_000014.8:g.101349616_101349629del , CM000676.1:g.101349616_101349629del GRCh37
NC_000014.7:g.100419369_100419382del NCBI36
NG_045001.1:g.6556_6569del
NG_045000.5:g.52011_52024del
NG_045000.6:g.52011_52024del
NG_045001.2:g.25431_25444del

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1497_1510del MANE Select ENSP00000497482.1:p.Phe500ArgfsTer?
ENST00000534062.1:c.1497_1510del ENSP00000435342.1:p.Phe500ArgfsTer?
NM_001134888.2:c.1497_1510del NP_001128360.1:p.Phe500ArgfsTer?
NM_001134888.3:c.1497_1510del MANE Select NP_001128360.1:p.Phe500ArgfsTer?