Canonical Allele Identifier: CA2664570995
Gene: TMEM43 HGNC NCBI

Linked Data

gnomAD v4: 3-14141458-CT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14141460del , CM000665.2:g.14141460del GRCh38
NC_000003.11:g.14182960del , CM000665.1:g.14182960del GRCh37
NC_000003.10:g.14157961del NCBI36
NG_008975.1:g.21521del , LRG_435:g.21521del

Transcript Alleles

HGVS Amino-acid change
ENST00000432444.2:c.*1031-133del ENSP00000395617.1:n.*1031-133del
ENST00000306077.5:c.1001-133del MANE Select ENSP00000303992.5:n.1001-133del
ENST00000306077.4:c.1001-133del ENSP00000303992.4:n.1001-133del
ENST00000601399.3:n.327+2163del
ENST00000608606.1:c.236+2163del
NM_024334.2:c.1001-133del , LRG_435t1:c.1001-133del NP_077310.1:n.1001-133del
XM_011534109.1:c.896-133del XP_011532411.1:n.896-133del
XM_017007176.2:c.896-133del XP_016862665.1:n.896-133del
NM_024334.3:c.1001-133del MANE Select NP_077310.1:n.1001-133del
Search 100 bp 5'
Search 100 bp 3'