Canonical Allele Identifier: CA616579500

Gene: RTL1

Linked Data

• dbSNP Id: rs1566753374
• gnomAD v2: 14-101349015-GCA-G
• gnomAD v4: 14-100882678-GCA-G
• MyVariant Identifiers: chr14:g.101349016_101349017del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.100882679_100882680del , CM000676.2:g.100882679_100882680del	GRCh38
NC_000014.8:g.101349016_101349017del , CM000676.1:g.101349016_101349017del	GRCh37
NC_000014.7:g.100418769_100418770del	NCBI36
NG_045001.1:g.7168_7169del
NG_045000.5:g.51411_51412del
NG_045000.6:g.51411_51412del
NG_045001.2:g.26043_26044del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649591.1:c.2109_2110del MANE Select	ENSP00000497482.1:p.Ser706ProfsTer?
ENST00000534062.1:c.2109_2110del	ENSP00000435342.1:p.Ser706ProfsTer?
NM_001134888.2:c.2109_2110del	NP_001128360.1:p.Ser706ProfsTer?
NM_001134888.3:c.2109_2110del MANE Select	NP_001128360.1:p.Ser706ProfsTer?