Canonical Allele Identifier: CA2802833486
Gene: RTL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100883270_100883272del , CM000676.2:g.100883270_100883272del GRCh38
NC_000014.8:g.101349607_101349609del , CM000676.1:g.101349607_101349609del GRCh37
NC_000014.7:g.100419360_100419362del NCBI36
NG_045001.1:g.6576_6578del
NG_045000.5:g.52002_52004del
NG_045000.6:g.52002_52004del
NG_045001.2:g.25451_25453del

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1517_1519del MANE Select ENSP00000497482.1:p.Ile506_Arg507delinsSer
ENST00000534062.1:c.1517_1519del ENSP00000435342.1:p.Ile506_Arg507delinsSer
NM_001134888.2:c.1517_1519del NP_001128360.1:p.Ile506_Arg507delinsSer
NM_001134888.3:c.1517_1519del MANE Select NP_001128360.1:p.Ile506_Arg507delinsSer