Canonical Allele Identifier: CA2499216515
Gene: TMEM43 HGNC NCBI

Linked Data

ClinVar Variation Id: 1170989
ClinVar RCV Id: RCV001523876
dbSNP Id: rs2124985708
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14129529del , CM000665.2:g.14129529del GRCh38
NC_000003.11:g.14171029del , CM000665.1:g.14171029del GRCh37
NC_000003.10:g.14146030del NCBI36
NG_008975.1:g.9590del , LRG_435:g.9590del

Transcript Alleles

HGVS Amino-acid Change
ENST00000432444.2:c.*160del ENSP00000395617.1:n.*160del
ENST00000306077.5:c.130del MANE Select ENSP00000303992.5:p.Leu44CysfsTer6
ENST00000306077.4:c.130del ENSP00000303992.4:p.Leu44CysfsTer6
ENST00000432444.1:c.*160del ENSP00000395617.1:n.*160del
NM_024334.2:c.130del , LRG_435t1:c.130del NP_077310.1:p.Leu44CysfsTer6
XM_011534109.1:c.25del XP_011532411.1:p.Leu9CysfsTer6
XM_017007176.2:c.25del XP_016862665.1:p.Leu9CysfsTer6
NM_024334.3:c.130del MANE Select NP_077310.1:p.Leu44CysfsTer6
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