Canonical Allele Identifier: CA2802833481
Gene: RTL1 HGNC NCBI
MIR127 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100883016_100883017insCGATGATCTT , CM000676.2:g.100883016_100883017insCGATGATCTT GRCh38
NC_000014.8:g.101349353_101349354insCGATGATCTT , CM000676.1:g.101349353_101349354insCGATGATCTT GRCh37
NC_000014.7:g.100419106_100419107insCGATGATCTT NCBI36
NG_045001.1:g.6831_6832insAAGATCATCG
NG_045000.5:g.51748_51749insCGATGATCTT
NG_045000.6:g.51748_51749insCGATGATCTT
NG_045001.2:g.25706_25707insAAGATCATCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1772_1773insAAGATCATCG (RTL1) MANE Select ENSP00000497482.1:p.Pro592ArgfsTer6
ENST00000534062.1:c.1772_1773insAAGATCATCG (RTL1) ENSP00000435342.1:p.Pro592ArgfsTer6
NM_001134888.2:c.1772_1773insAAGATCATCG (RTL1) NP_001128360.1:p.Pro592ArgfsTer6
NR_029696.1:n.38_39insCGATGATCTT (MIR127)
NM_001134888.3:c.1772_1773insAAGATCATCG (RTL1) MANE Select NP_001128360.1:p.Pro592ArgfsTer6
Search 100 bp 5'
Search 100 bp 3'