Canonical Allele Identifier: CA2626552830
Gene: RTL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100882744del , CM000676.2:g.100882744del GRCh38
NC_000014.8:g.101349081del , CM000676.1:g.101349081del GRCh37
NC_000014.7:g.100418834del NCBI36
NG_045001.1:g.7105del
NG_045000.5:g.51476del
NG_045000.6:g.51476del
NG_045001.2:g.25980del

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.2046del MANE Select ENSP00000497482.1:p.Glu683LysfsTer15
ENST00000534062.1:c.2046del ENSP00000435342.1:p.Glu683LysfsTer15
NM_001134888.2:c.2046del NP_001128360.1:p.Glu683LysfsTer15
NM_001134888.3:c.2046del MANE Select NP_001128360.1:p.Glu683LysfsTer15