Canonical Allele Identifier: CA2159075167
Gene: RTL1 HGNC NCBI

Linked Data

dbSNP Id: rs2038650818

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100883496_100883505del , CM000676.2:g.100883496_100883505del GRCh38
NC_000014.8:g.101349833_101349842del , CM000676.1:g.101349833_101349842del GRCh37
NC_000014.7:g.100419586_100419595del NCBI36
NG_045001.1:g.6345_6354del
NG_045000.5:g.52228_52237del
NG_045000.6:g.52228_52237del
NG_045001.2:g.25220_25229del

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1286_1295del MANE Select ENSP00000497482.1:p.Val429GlufsTer?
ENST00000534062.1:c.1286_1295del ENSP00000435342.1:p.Val429GlufsTer?
NM_001134888.2:c.1286_1295del NP_001128360.1:p.Val429GlufsTer?
NM_001134888.3:c.1286_1295del MANE Select NP_001128360.1:p.Val429GlufsTer?