Canonical Allele Identifier: CA2159075157
Gene: RTL1 HGNC NCBI

Linked Data

dbSNP Id: rs2038650431
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100883480del , CM000676.2:g.100883480del GRCh38
NC_000014.8:g.101349817del , CM000676.1:g.101349817del GRCh37
NC_000014.7:g.100419570del NCBI36
NG_045001.1:g.6369del
NG_045000.5:g.52212del
NG_045000.6:g.52212del
NG_045001.2:g.25244del

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1310del MANE Select ENSP00000497482.1:p.Phe437SerfsTer30
ENST00000534062.1:c.1310del ENSP00000435342.1:p.Phe437SerfsTer30
NM_001134888.2:c.1310del NP_001128360.1:p.Phe437SerfsTer30
NM_001134888.3:c.1310del MANE Select NP_001128360.1:p.Phe437SerfsTer30
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