Canonical Allele Identifier: CA2159075156
Gene: RTL1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100883478_100883479delinsGA , CM000676.2:g.100883478_100883479delinsGA GRCh38
NC_000014.8:g.101349815_101349816delinsGA , CM000676.1:g.101349815_101349816delinsGA GRCh37
NC_000014.7:g.100419568_100419569delinsGA NCBI36
NG_045001.1:g.6369_6370delinsTC
NG_045000.5:g.52210_52211delinsGA
NG_045000.6:g.52210_52211delinsGA
NG_045001.2:g.25244_25245delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1310_1311delinsTC MANE Select ENSP00000497482.1:p.Phe437=
ENST00000534062.1:c.1310_1311delinsTC ENSP00000435342.1:p.Phe437=
NM_001134888.2:c.1310_1311delinsTC NP_001128360.1:p.Phe437=
NM_001134888.3:c.1310_1311delinsTC MANE Select NP_001128360.1:p.Phe437=
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