Canonical Allele Identifier: CA2802833483

Gene: RTL1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.100883257_100883258insG , CM000676.2:g.100883257_100883258insG	GRCh38
NC_000014.8:g.101349594_101349595insG , CM000676.1:g.101349594_101349595insG	GRCh37
NC_000014.7:g.100419347_100419348insG	NCBI36
NG_045001.1:g.6590_6591insC
NG_045000.5:g.51989_51990insG
NG_045000.6:g.51989_51990insG
NG_045001.2:g.25465_25466insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649591.1:c.1531_1532insC MANE Select	ENSP00000497482.1:p.Val511AlafsTer?
ENST00000534062.1:c.1531_1532insC	ENSP00000435342.1:p.Val511AlafsTer?
NM_001134888.2:c.1531_1532insC	NP_001128360.1:p.Val511AlafsTer?
NM_001134888.3:c.1531_1532insC MANE Select	NP_001128360.1:p.Val511AlafsTer?