Canonical Allele Identifier: CA2802833478

Gene: RTL1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.100882732_100882733insCA , CM000676.2:g.100882732_100882733insCA	GRCh38
NC_000014.8:g.101349069_101349070insCA , CM000676.1:g.101349069_101349070insCA	GRCh37
NC_000014.7:g.100418822_100418823insCA	NCBI36
NG_045001.1:g.7115_7116insTG
NG_045000.5:g.51464_51465insCA
NG_045000.6:g.51464_51465insCA
NG_045001.2:g.25990_25991insTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649591.1:c.2056_2057insTG MANE Select	ENSP00000497482.1:p.Trp686LeufsTer13
ENST00000534062.1:c.2056_2057insTG	ENSP00000435342.1:p.Trp686LeufsTer13
NM_001134888.2:c.2056_2057insTG	NP_001128360.1:p.Trp686LeufsTer13
NM_001134888.3:c.2056_2057insTG MANE Select	NP_001128360.1:p.Trp686LeufsTer13