Canonical Allele Identifier: CA2697550691
Gene: TMEM43 HGNC NCBI

Linked Data

ClinVar Variation Id: 2704849
ClinVar RCV Id: RCV003496226
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14129498_14129519del , CM000665.2:g.14129498_14129519del GRCh38
NC_000003.11:g.14170998_14171019del , CM000665.1:g.14170998_14171019del GRCh37
NC_000003.10:g.14145999_14146020del NCBI36
NG_008975.1:g.9559_9580del , LRG_435:g.9559_9580del

Transcript Alleles

HGVS Amino-acid Change
ENST00000432444.2:c.*129_*150del ENSP00000395617.1:n.*129_*150del
ENST00000306077.5:c.99_120del MANE Select ENSP00000303992.5:p.Gly34TrpfsTer9
ENST00000306077.4:c.99_120del ENSP00000303992.4:p.Gly34TrpfsTer9
ENST00000432444.1:c.*129_*150del ENSP00000395617.1:n.*129_*150del
NM_024334.2:c.99_120del , LRG_435t1:c.99_120del NP_077310.1:p.Gly34TrpfsTer9
XM_011534109.1:c.-7_15del
XM_017007176.2:c.-7_15del
NM_024334.3:c.99_120del MANE Select NP_077310.1:p.Gly34TrpfsTer9
Search 100 bp 5'
Search 100 bp 3'