Canonical Allele Identifier: CA2534973643
Gene: RTL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100883488_100883491del , CM000676.2:g.100883488_100883491del GRCh38
NC_000014.8:g.101349825_101349828del , CM000676.1:g.101349825_101349828del GRCh37
NC_000014.7:g.100419578_100419581del NCBI36
NG_045001.1:g.6358_6361del
NG_045000.5:g.52220_52223del
NG_045000.6:g.52220_52223del
NG_045001.2:g.25233_25236del

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1299_1302del MANE Select ENSP00000497482.1:p.Asp434AlafsTer?
ENST00000534062.1:c.1299_1302del ENSP00000435342.1:p.Asp434AlafsTer?
NM_001134888.2:c.1299_1302del NP_001128360.1:p.Asp434AlafsTer?
NM_001134888.3:c.1299_1302del MANE Select NP_001128360.1:p.Asp434AlafsTer?