Canonical Allele Identifier: CA703096543
Gene: RTL1 HGNC NCBI

Linked Data

dbSNP Id: rs1214510783
gnomAD v3: 14-100882909-GCT-G
gnomAD v4: 14-100882909-GCT-G
MyVariant Identifiers: chr14:g.101349247_101349248del (hg19) chr14:g.100882910_100882911del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100882912_100882913del , CM000676.2:g.100882912_100882913del GRCh38
NC_000014.8:g.101349249_101349250del , CM000676.1:g.101349249_101349250del GRCh37
NC_000014.7:g.100419002_100419003del NCBI36
NG_045001.1:g.6937_6938del
NG_045000.5:g.51644_51645del
NG_045000.6:g.51644_51645del
NG_045001.2:g.25812_25813del

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1878_1879del MANE Select ENSP00000497482.1:p.Arg626SerfsTer29
ENST00000534062.1:c.1878_1879del ENSP00000435342.1:p.Arg626SerfsTer29
NM_001134888.2:c.1878_1879del NP_001128360.1:p.Arg626SerfsTer29
NM_001134888.3:c.1878_1879del MANE Select NP_001128360.1:p.Arg626SerfsTer29
Search 100 bp 5'
Search 100 bp 3'