Canonical Allele Identifier: CA2664568580
Gene: TMEM43 HGNC NCBI

Linked Data

gnomAD v4: 3-14129516-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14129517del , CM000665.2:g.14129517del GRCh38
NC_000003.11:g.14171017del , CM000665.1:g.14171017del GRCh37
NC_000003.10:g.14146018del NCBI36
NG_008975.1:g.9578del , LRG_435:g.9578del

Transcript Alleles

HGVS Amino-acid Change
ENST00000432444.2:c.*148del ENSP00000395617.1:n.*148del
ENST00000306077.5:c.118del MANE Select ENSP00000303992.5:p.Leu40SerfsTer10
ENST00000306077.4:c.118del ENSP00000303992.4:p.Leu40SerfsTer10
ENST00000432444.1:c.*148del ENSP00000395617.1:n.*148del
NM_024334.2:c.118del , LRG_435t1:c.118del NP_077310.1:p.Leu40SerfsTer10
XM_011534109.1:c.13del XP_011532411.1:p.Leu5SerfsTer10
XM_017007176.2:c.13del XP_016862665.1:p.Leu5SerfsTer10
NM_024334.3:c.118del MANE Select NP_077310.1:p.Leu40SerfsTer10
Search 100 bp 5'
Search 100 bp 3'