Canonical Allele Identifier: CA2802833476

Gene: RTL1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.100882726_100882730del , CM000676.2:g.100882726_100882730del	GRCh38
NC_000014.8:g.101349063_101349067del , CM000676.1:g.101349063_101349067del	GRCh37
NC_000014.7:g.100418816_100418820del	NCBI36
NG_045001.1:g.7119_7123del
NG_045000.5:g.51458_51462del
NG_045000.6:g.51458_51462del
NG_045001.2:g.25994_25998del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649591.1:c.2060_2064del MANE Select	ENSP00000497482.1:p.Lys687SerfsTer7
ENST00000534062.1:c.2060_2064del	ENSP00000435342.1:p.Lys687SerfsTer7
NM_001134888.2:c.2060_2064del	NP_001128360.1:p.Lys687SerfsTer7
NM_001134888.3:c.2060_2064del MANE Select	NP_001128360.1:p.Lys687SerfsTer7