Canonical Allele Identifier: CA966590579
Gene: RTL1 HGNC NCBI

Linked Data

gnomAD v3: 14-100883395-G-GTTAAAAA
gnomAD v4: 14-100883395-G-GTTAAAAA
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100883395_100883396insTTAAAAA , CM000676.2:g.100883395_100883396insTTAAAAA GRCh38
NC_000014.8:g.101349732_101349733insTTAAAAA , CM000676.1:g.101349732_101349733insTTAAAAA GRCh37
NC_000014.7:g.100419485_100419486insTTAAAAA NCBI36
NG_045001.1:g.6452_6453insTTTTTAA
NG_045000.5:g.52127_52128insTTAAAAA
NG_045000.6:g.52127_52128insTTAAAAA
NG_045001.2:g.25327_25328insTTTTTAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1393_1394insTTTTTAA MANE Select ENSP00000497482.1:p.Ser465PhefsTer31
ENST00000534062.1:c.1393_1394insTTTTTAA ENSP00000435342.1:p.Ser465PhefsTer31
NM_001134888.2:c.1393_1394insTTTTTAA NP_001128360.1:p.Ser465PhefsTer31
NM_001134888.3:c.1393_1394insTTTTTAA MANE Select NP_001128360.1:p.Ser465PhefsTer31
Search 100 bp 5'
Search 100 bp 3'