Canonical Allele Identifier: CA2626553681
Gene: RTL1 HGNC NCBI

Linked Data

gnomAD v4: 14-100883345-TAC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100883350_100883351del , CM000676.2:g.100883350_100883351del GRCh38
NC_000014.8:g.101349687_101349688del , CM000676.1:g.101349687_101349688del GRCh37
NC_000014.7:g.100419440_100419441del NCBI36
NG_045001.1:g.6501_6502del
NG_045000.5:g.52082_52083del
NG_045000.6:g.52082_52083del
NG_045001.2:g.25376_25377del

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1442_1443del MANE Select ENSP00000497482.1:p.Cys481TyrfsTer12
ENST00000534062.1:c.1442_1443del ENSP00000435342.1:p.Cys481TyrfsTer12
NM_001134888.2:c.1442_1443del NP_001128360.1:p.Cys481TyrfsTer12
NM_001134888.3:c.1442_1443del MANE Select NP_001128360.1:p.Cys481TyrfsTer12
Search 100 bp 5'
Search 100 bp 3'