Canonical Allele Identifier: CA2505227173

Gene: RTL1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.100883493_100883494insGG , CM000676.2:g.100883493_100883494insGG	GRCh38
NC_000014.8:g.101349830_101349831insGG , CM000676.1:g.101349830_101349831insGG	GRCh37
NC_000014.7:g.100419583_100419584insGG	NCBI36
NG_045001.1:g.6354_6355insCC
NG_045000.5:g.52225_52226insGG
NG_045000.6:g.52225_52226insGG
NG_045001.2:g.25229_25230insCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649591.1:c.1295_1296insCC MANE Select	ENSP00000497482.1:p.Ala433GlnfsTer?
ENST00000534062.1:c.1295_1296insCC	ENSP00000435342.1:p.Ala433GlnfsTer?
NM_001134888.2:c.1295_1296insCC	NP_001128360.1:p.Ala433GlnfsTer?
NM_001134888.3:c.1295_1296insCC MANE Select	NP_001128360.1:p.Ala433GlnfsTer?