Canonical Allele Identifier: CA2802833477

Gene: RTL1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.100882728_100882730del , CM000676.2:g.100882728_100882730del	GRCh38
NC_000014.8:g.101349065_101349067del , CM000676.1:g.101349065_101349067del	GRCh37
NC_000014.7:g.100418818_100418820del	NCBI36
NG_045001.1:g.7118_7120del
NG_045000.5:g.51460_51462del
NG_045000.6:g.51460_51462del
NG_045001.2:g.25993_25995del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649591.1:c.2059_2061del MANE Select	ENSP00000497482.1:p.Lys687del
ENST00000534062.1:c.2059_2061del	ENSP00000435342.1:p.Lys687del
NM_001134888.2:c.2059_2061del	NP_001128360.1:p.Lys687del
NM_001134888.3:c.2059_2061del MANE Select	NP_001128360.1:p.Lys687del