Canonical Allele Identifier: CA2802833482

Gene: RTL1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.100883255_100883257del , CM000676.2:g.100883255_100883257del	GRCh38
NC_000014.8:g.101349592_101349594del , CM000676.1:g.101349592_101349594del	GRCh37
NC_000014.7:g.100419345_100419347del	NCBI36
NG_045001.1:g.6591_6593del
NG_045000.5:g.51987_51989del
NG_045000.6:g.51987_51989del
NG_045001.2:g.25466_25468del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649591.1:c.1532_1534del MANE Select	ENSP00000497482.1:p.Val511_His512delinsAsp
ENST00000534062.1:c.1532_1534del	ENSP00000435342.1:p.Val511_His512delinsAsp
NM_001134888.2:c.1532_1534del	NP_001128360.1:p.Val511_His512delinsAsp
NM_001134888.3:c.1532_1534del MANE Select	NP_001128360.1:p.Val511_His512delinsAsp