Canonical Allele Identifier: CA1346968626
Gene: TMEM43 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14130926_14130929delinsGCAC , CM000665.2:g.14130926_14130929delinsGCAC GRCh38
NC_000003.11:g.14172426_14172429delinsGCAC , CM000665.1:g.14172426_14172429delinsGCAC GRCh37
NC_000003.10:g.14147427_14147430delinsGCAC NCBI36
NG_008975.1:g.10987_10990delinsGCAC , LRG_435:g.10987_10990delinsGCAC

Transcript Alleles

HGVS Amino-acid change
ENST00000432444.2:c.*297_*300delinsGCAC ENSP00000395617.1:n.*297_*300delinsGCAC
ENST00000306077.5:c.267_270delinsGCAC MANE Select ENSP00000303992.5:p.Val89=
ENST00000306077.4:c.267_270delinsGCAC ENSP00000303992.4:p.Val89=
ENST00000432444.1:c.*297_*300delinsGCAC ENSP00000395617.1:n.*297_*300delinsGCAC
NM_024334.2:c.267_270delinsGCAC , LRG_435t1:c.267_270delinsGCAC NP_077310.1:p.Val89=
XM_011534109.1:c.162_165delinsGCAC XP_011532411.1:p.Val54=
XM_017007176.2:c.162_165delinsGCAC XP_016862665.1:p.Val54=
NM_024334.3:c.267_270delinsGCAC MANE Select NP_077310.1:p.Val89=
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