Canonical Allele Identifier: CA2499881842

Gene: RTL1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.100883496_100883497insCG , CM000676.2:g.100883496_100883497insCG	GRCh38
NC_000014.8:g.101349833_101349834insCG , CM000676.1:g.101349833_101349834insCG	GRCh37
NC_000014.7:g.100419586_100419587insCG	NCBI36
NG_045001.1:g.6351_6352insCG
NG_045000.5:g.52228_52229insCG
NG_045000.6:g.52228_52229insCG
NG_045001.2:g.25226_25227insCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649591.1:c.1292_1293insCG MANE Select	ENSP00000497482.1:p.Ala433GlufsTer?
ENST00000534062.1:c.1292_1293insCG	ENSP00000435342.1:p.Ala433GlufsTer?
NM_001134888.2:c.1292_1293insCG	NP_001128360.1:p.Ala433GlufsTer?
NM_001134888.3:c.1292_1293insCG MANE Select	NP_001128360.1:p.Ala433GlufsTer?