Canonical Allele Identifier: CA2159074381
Gene: RTL1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100882678_100882680delinsGCA , CM000676.2:g.100882678_100882680delinsGCA GRCh38
NC_000014.8:g.101349015_101349017delinsGCA , CM000676.1:g.101349015_101349017delinsGCA GRCh37
NC_000014.7:g.100418768_100418770delinsGCA NCBI36
NG_045001.1:g.7168_7170delinsTGC
NG_045000.5:g.51410_51412delinsGCA
NG_045000.6:g.51410_51412delinsGCA
NG_045001.2:g.26043_26045delinsTGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.2109_2111delinsTGC MANE Select ENSP00000497482.1:p.Phe703=
ENST00000534062.1:c.2109_2111delinsTGC ENSP00000435342.1:p.Phe703=
NM_001134888.2:c.2109_2111delinsTGC NP_001128360.1:p.Phe703=
NM_001134888.3:c.2109_2111delinsTGC MANE Select NP_001128360.1:p.Phe703=
Search 100 bp 5'
Search 100 bp 3'