Canonical Allele Identifier: CA2626552875
Gene: RTL1 HGNC NCBI

Linked Data

gnomAD v4: 14-100882793-G-GTT
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100882796_100882797dup , CM000676.2:g.100882796_100882797dup GRCh38
NC_000014.8:g.101349133_101349134dup , CM000676.1:g.101349133_101349134dup GRCh37
NC_000014.7:g.100418886_100418887dup NCBI36
NG_045001.1:g.7053_7054dup
NG_045000.5:g.51528_51529dup
NG_045000.6:g.51528_51529dup
NG_045001.2:g.25928_25929dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1994_1995dup MANE Select ENSP00000497482.1:p.Leu666AsnfsTer13
ENST00000534062.1:c.1994_1995dup ENSP00000435342.1:p.Leu666AsnfsTer13
NM_001134888.2:c.1994_1995dup NP_001128360.1:p.Leu666AsnfsTer13
NM_001134888.3:c.1994_1995dup MANE Select NP_001128360.1:p.Leu666AsnfsTer13
Search 100 bp 5'
Search 100 bp 3'