Canonical Allele Identifier: CA703097607
Gene: RTL1 HGNC NCBI

Linked Data

dbSNP Id: rs1354597857
MyVariant Identifiers: chr14:g.101349784_101349785insGT (hg19) chr14:g.100883447_100883448insGT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100883448_100883449dup , CM000676.2:g.100883448_100883449dup GRCh38
NC_000014.8:g.101349785_101349786dup , CM000676.1:g.101349785_101349786dup GRCh37
NC_000014.7:g.100419538_100419539dup NCBI36
NG_045001.1:g.6399_6400dup
NG_045000.5:g.52180_52181dup
NG_045000.6:g.52180_52181dup
NG_045001.2:g.25274_25275dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000649591.1:c.1340_1341dup MANE Select ENSP00000497482.1:p.Val448ThrfsTer20
ENST00000534062.1:c.1340_1341dup ENSP00000435342.1:p.Val448ThrfsTer20
NM_001134888.2:c.1340_1341dup NP_001128360.1:p.Val448ThrfsTer20
NM_001134888.3:c.1340_1341dup MANE Select NP_001128360.1:p.Val448ThrfsTer20
Search 100 bp 5'
Search 100 bp 3'