Canonical Allele Identifier: CA2626553074
Gene: RTL1 HGNC NCBI

Linked Data

gnomAD v4: 14-100882976-CGCT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100882978_100882980del , CM000676.2:g.100882978_100882980del GRCh38
NC_000014.8:g.101349315_101349317del , CM000676.1:g.101349315_101349317del GRCh37
NC_000014.7:g.100419068_100419070del NCBI36
NG_045001.1:g.6869_6871del
NG_045000.5:g.51710_51712del
NG_045000.6:g.51710_51712del
NG_045001.2:g.25744_25746del

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1810_1812del MANE Select ENSP00000497482.1:p.Ser604del
ENST00000534062.1:c.1810_1812del ENSP00000435342.1:p.Ser604del
NM_001134888.2:c.1810_1812del NP_001128360.1:p.Ser604del
NM_001134888.3:c.1810_1812del MANE Select NP_001128360.1:p.Ser604del
Search 100 bp 5'
Search 100 bp 3'