Canonical Allele Identifier: CA2580068488
Gene: TMEM43 HGNC NCBI

Linked Data

ClinVar Variation Id: 1765714
ClinVar RCV Id: RCV002378582
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14139205_14139206delinsAT , CM000665.2:g.14139205_14139206delinsAT GRCh38
NC_000003.11:g.14180705_14180706delinsAT , CM000665.1:g.14180705_14180706delinsAT GRCh37
NC_000003.10:g.14155706_14155707delinsAT NCBI36
NG_008975.1:g.19266_19267delinsAT , LRG_435:g.19266_19267delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000432444.2:c.*938_*939delinsAT ENSP00000395617.1:n.*938_*939delinsAT
ENST00000306077.5:c.908_909delinsAT MANE Select ENSP00000303992.5:p.Ser303Asn
ENST00000306077.4:c.908_909delinsAT ENSP00000303992.4:p.Ser303Asn
ENST00000601399.3:n.235_236delinsAT
ENST00000608606.1:c.144_145delinsAT
NM_024334.2:c.908_909delinsAT , LRG_435t1:c.908_909delinsAT NP_077310.1:p.Ser303Asn
XM_011534109.1:c.803_804delinsAT XP_011532411.1:p.Ser268Asn
XM_017007176.2:c.803_804delinsAT XP_016862665.1:p.Ser268Asn
NM_024334.3:c.908_909delinsAT MANE Select NP_077310.1:p.Ser303Asn
Search 100 bp 5'
Search 100 bp 3'