Canonical Allele Identifier: CA2626554060
Gene: RTL1 HGNC NCBI

Linked Data

gnomAD v4: 14-100883516-CCGCGACG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100883518_100883524del , CM000676.2:g.100883518_100883524del GRCh38
NC_000014.8:g.101349855_101349861del , CM000676.1:g.101349855_101349861del GRCh37
NC_000014.7:g.100419608_100419614del NCBI36
NG_045001.1:g.6325_6331del
NG_045000.5:g.52250_52256del
NG_045000.6:g.52250_52256del
NG_045001.2:g.25200_25206del

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1266_1272del MANE Select ENSP00000497482.1:p.Ser422ArgfsTer?
ENST00000534062.1:c.1266_1272del ENSP00000435342.1:p.Ser422ArgfsTer?
NM_001134888.2:c.1266_1272del NP_001128360.1:p.Ser422ArgfsTer?
NM_001134888.3:c.1266_1272del MANE Select NP_001128360.1:p.Ser422ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'