Canonical Allele Identifier: CA2838407817
Gene: TMEM43 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14129582del , CM000665.2:g.14129582del GRCh38
NC_000003.11:g.14171082del , CM000665.1:g.14171082del GRCh37
NC_000003.10:g.14146083del NCBI36
NG_008975.1:g.9643del , LRG_435:g.9643del

Transcript Alleles

HGVS Amino-acid Change
ENST00000432444.2:c.*192+21del ENSP00000395617.1:n.*192+21del
ENST00000306077.5:c.162+21del MANE Select ENSP00000303992.5:n.162+21del
ENST00000306077.4:c.162+21del ENSP00000303992.4:n.162+21del
ENST00000432444.1:c.*192+21del ENSP00000395617.1:n.*192+21del
NM_024334.2:c.162+21del , LRG_435t1:c.162+21del NP_077310.1:n.162+21del
XM_011534109.1:c.57+21del XP_011532411.1:n.57+21del
XM_017007176.2:c.57+21del XP_016862665.1:n.57+21del
NM_024334.3:c.162+21del MANE Select NP_077310.1:n.162+21del
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