Canonical Allele Identifier: CA2514427668
Gene: RTL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100883485_100883486insT , CM000676.2:g.100883485_100883486insT GRCh38
NC_000014.8:g.101349822_101349823insT , CM000676.1:g.101349822_101349823insT GRCh37
NC_000014.7:g.100419575_100419576insT NCBI36
NG_045001.1:g.6362_6363insA
NG_045000.5:g.52217_52218insT
NG_045000.6:g.52217_52218insT
NG_045001.2:g.25237_25238insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1303_1304insA MANE Select ENSP00000497482.1:p.Gly435GlufsTer6
ENST00000534062.1:c.1303_1304insA ENSP00000435342.1:p.Gly435GlufsTer6
NM_001134888.2:c.1303_1304insA NP_001128360.1:p.Gly435GlufsTer6
NM_001134888.3:c.1303_1304insA MANE Select NP_001128360.1:p.Gly435GlufsTer6