Canonical Allele Identifier: CA2626554140
Gene: RTL1 HGNC NCBI

Linked Data

gnomAD v4: 14-100883539-ACT-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100883543_100883544del , CM000676.2:g.100883543_100883544del GRCh38
NC_000014.8:g.101349880_101349881del , CM000676.1:g.101349880_101349881del GRCh37
NC_000014.7:g.100419633_100419634del NCBI36
NG_045001.1:g.6307_6308del
NG_045000.5:g.52275_52276del
NG_045000.6:g.52275_52276del
NG_045001.2:g.25182_25183del

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1248_1249del MANE Select ENSP00000497482.1:p.Arg416SerfsTer18
ENST00000534062.1:c.1248_1249del ENSP00000435342.1:p.Arg416SerfsTer18
NM_001134888.2:c.1248_1249del NP_001128360.1:p.Arg416SerfsTer18
NM_001134888.3:c.1248_1249del MANE Select NP_001128360.1:p.Arg416SerfsTer18
Search 100 bp 5'
Search 100 bp 3'