Canonical Allele Identifier: CA2989162961

Gene: TMEM43

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14141742dup , CM000665.2:g.14141742dup	GRCh38
NC_000003.11:g.14183242dup , CM000665.1:g.14183242dup	GRCh37
NC_000003.10:g.14158243dup	NCBI36
NG_008975.1:g.21803dup , LRG_435:g.21803dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432444.2:c.*1180dup	ENSP00000395617.1:n.*1180dup
ENST00000306077.5:c.1150dup MANE Select	ENSP00000303992.5:p.Leu384ProfsTer?
ENST00000306077.4:c.1150dup	ENSP00000303992.4:p.Leu384ProfsTer?
ENST00000601399.3:n.327+2445dup
ENST00000608606.1:c.236+2445dup
ENST00000626721.1:n.15dup
NM_024334.2:c.1150dup , LRG_435t1:c.1150dup	NP_077310.1:p.Leu384ProfsTer?
XM_011534109.1:c.1045dup	XP_011532411.1:p.Leu349ProfsTer?
XM_017007176.2:c.1045dup	XP_016862665.1:p.Leu349ProfsTer?
NM_024334.3:c.1150dup MANE Select	NP_077310.1:p.Leu384ProfsTer?