Canonical Allele Identifier: CA2802833487
Gene: RTL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100883275_100883276insTCTT , CM000676.2:g.100883275_100883276insTCTT GRCh38
NC_000014.8:g.101349612_101349613insTCTT , CM000676.1:g.101349612_101349613insTCTT GRCh37
NC_000014.7:g.100419365_100419366insTCTT NCBI36
NG_045001.1:g.6572_6573insAAGA
NG_045000.5:g.52007_52008insTCTT
NG_045000.6:g.52007_52008insTCTT
NG_045001.2:g.25447_25448insAAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1513_1514insAAGA MANE Select ENSP00000497482.1:p.Gly505GlufsTer?
ENST00000534062.1:c.1513_1514insAAGA ENSP00000435342.1:p.Gly505GlufsTer?
NM_001134888.2:c.1513_1514insAAGA NP_001128360.1:p.Gly505GlufsTer?
NM_001134888.3:c.1513_1514insAAGA MANE Select NP_001128360.1:p.Gly505GlufsTer?