Canonical Allele Identifier: CA2159075166

Gene: RTL1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.100883493_100883503delinsTCCCGAATCCA , CM000676.2:g.100883493_100883503delinsTCCCGAATCCA	GRCh38
NC_000014.8:g.101349830_101349840delinsTCCCGAATCCA , CM000676.1:g.101349830_101349840delinsTCCCGAATCCA	GRCh37
NC_000014.7:g.100419583_100419593delinsTCCCGAATCCA	NCBI36
NG_045001.1:g.6345_6355delinsTGGATTCGGGA
NG_045000.5:g.52225_52235delinsTCCCGAATCCA
NG_045000.6:g.52225_52235delinsTCCCGAATCCA
NG_045001.2:g.25220_25230delinsTGGATTCGGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649591.1:c.1286_1296delinsTGGATTCGGGA MANE Select	ENSP00000497482.1:p.Val429=
ENST00000534062.1:c.1286_1296delinsTGGATTCGGGA	ENSP00000435342.1:p.Val429=
NM_001134888.2:c.1286_1296delinsTGGATTCGGGA	NP_001128360.1:p.Val429=
NM_001134888.3:c.1286_1296delinsTGGATTCGGGA MANE Select	NP_001128360.1:p.Val429=