Canonical Allele Identifier: CA2802833474
Gene: RTL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100882717_100882718insACACCCAACA , CM000676.2:g.100882717_100882718insACACCCAACA GRCh38
NC_000014.8:g.101349054_101349055insACACCCAACA , CM000676.1:g.101349054_101349055insACACCCAACA GRCh37
NC_000014.7:g.100418807_100418808insACACCCAACA NCBI36
NG_045001.1:g.7130_7131insTGTTGGGTGT
NG_045000.5:g.51449_51450insACACCCAACA
NG_045000.6:g.51449_51450insACACCCAACA
NG_045001.2:g.26005_26006insTGTTGGGTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.2071_2072insTGTTGGGTGT MANE Select ENSP00000497482.1:p.Gly691ValfsTer8
ENST00000534062.1:c.2071_2072insTGTTGGGTGT ENSP00000435342.1:p.Gly691ValfsTer8
NM_001134888.2:c.2071_2072insTGTTGGGTGT NP_001128360.1:p.Gly691ValfsTer8
NM_001134888.3:c.2071_2072insTGTTGGGTGT MANE Select NP_001128360.1:p.Gly691ValfsTer8