Canonical Allele Identifier: CA2626553039
Gene: RTL1 HGNC NCBI

Linked Data

gnomAD v4: 14-100882952-TGGAG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100882956_100882959del , CM000676.2:g.100882956_100882959del GRCh38
NC_000014.8:g.101349293_101349296del , CM000676.1:g.101349293_101349296del GRCh37
NC_000014.7:g.100419046_100419049del NCBI36
NG_045001.1:g.6892_6895del
NG_045000.5:g.51688_51691del
NG_045000.6:g.51688_51691del
NG_045001.2:g.25767_25770del

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1833_1836del MANE Select ENSP00000497482.1:p.Ser612ProfsTer28
ENST00000534062.1:c.1833_1836del ENSP00000435342.1:p.Ser612ProfsTer28
NM_001134888.2:c.1833_1836del NP_001128360.1:p.Ser612ProfsTer28
NM_001134888.3:c.1833_1836del MANE Select NP_001128360.1:p.Ser612ProfsTer28
Search 100 bp 5'
Search 100 bp 3'