Canonical Allele Identifier: CA2802833490
Gene: RTL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100883294_100883299del , CM000676.2:g.100883294_100883299del GRCh38
NC_000014.8:g.101349631_101349636del , CM000676.1:g.101349631_101349636del GRCh37
NC_000014.7:g.100419384_100419389del NCBI36
NG_045001.1:g.6549_6554del
NG_045000.5:g.52026_52031del
NG_045000.6:g.52026_52031del
NG_045001.2:g.25424_25429del

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1490_1495del MANE Select ENSP00000497482.1:p.Ser497_Asn499delinsTyr
ENST00000534062.1:c.1490_1495del ENSP00000435342.1:p.Ser497_Asn499delinsTyr
NM_001134888.2:c.1490_1495del NP_001128360.1:p.Ser497_Asn499delinsTyr
NM_001134888.3:c.1490_1495del MANE Select NP_001128360.1:p.Ser497_Asn499delinsTyr