Canonical Allele Identifier: CA616579499

Gene: RTL1

Linked Data

• dbSNP Id: rs1566753348
• gnomAD v2: 14-101349014-C-CCG
• gnomAD v4: 14-100882677-C-CCG
• MyVariant Identifiers: chr14:g.101349014_101349015insCG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.100882677_100882678insCG , CM000676.2:g.100882677_100882678insCG	GRCh38
NC_000014.8:g.101349014_101349015insCG , CM000676.1:g.101349014_101349015insCG	GRCh37
NC_000014.7:g.100418767_100418768insCG	NCBI36
NG_045001.1:g.7170_7171insCG
NG_045000.5:g.51409_51410insCG
NG_045000.6:g.51409_51410insCG
NG_045001.2:g.26045_26046insCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649591.1:c.2111_2112insCG MANE Select	ENSP00000497482.1:p.Leu705GlyfsTer12
ENST00000534062.1:c.2111_2112insCG	ENSP00000435342.1:p.Leu705GlyfsTer12
NM_001134888.2:c.2111_2112insCG	NP_001128360.1:p.Leu705GlyfsTer12
NM_001134888.3:c.2111_2112insCG MANE Select	NP_001128360.1:p.Leu705GlyfsTer12