Canonical Allele Identifier: CA2626554099
Gene: RTL1 HGNC NCBI

Linked Data

gnomAD v4: 14-100883525-T-TG
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100883526dup , CM000676.2:g.100883526dup GRCh38
NC_000014.8:g.101349863dup , CM000676.1:g.101349863dup GRCh37
NC_000014.7:g.100419616dup NCBI36
NG_045001.1:g.6322dup
NG_045000.5:g.52258dup
NG_045000.6:g.52258dup
NG_045001.2:g.25197dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1263dup MANE Select ENSP00000497482.1:p.Ser422GlnfsTer13
ENST00000534062.1:c.1263dup ENSP00000435342.1:p.Ser422GlnfsTer13
NM_001134888.2:c.1263dup NP_001128360.1:p.Ser422GlnfsTer13
NM_001134888.3:c.1263dup MANE Select NP_001128360.1:p.Ser422GlnfsTer13
Search 100 bp 5'
Search 100 bp 3'