Canonical Allele Identifier: CA2626553314
Gene: RTL1 HGNC NCBI

Linked Data

gnomAD v4: 14-100883112-G-GT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100883113dup , CM000676.2:g.100883113dup GRCh38
NC_000014.8:g.101349450dup , CM000676.1:g.101349450dup GRCh37
NC_000014.7:g.100419203dup NCBI36
NG_045001.1:g.6735dup
NG_045000.5:g.51845dup
NG_045000.6:g.51845dup
NG_045001.2:g.25610dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1676dup MANE Select ENSP00000497482.1:p.Tyr559Ter
ENST00000534062.1:c.1676dup ENSP00000435342.1:p.Tyr559Ter
NM_001134888.2:c.1676dup NP_001128360.1:p.Tyr559Ter
NM_001134888.3:c.1676dup MANE Select NP_001128360.1:p.Tyr559Ter
Search 100 bp 5'
Search 100 bp 3'