Canonical Allele Identifier: CA2580096814

Gene: TMEM147

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35547019dup , CM000681.2:g.35547019dup	GRCh38
NC_000019.9:g.36037921dup , CM000681.1:g.36037921dup	GRCh37
NC_000019.8:g.40729761dup	NCBI36
NG_046898.1:g.18608dup

Transcript Alleles

HGVS	Amino-acid Change
NM_032635.4:c.419dup MANE Select	NP_116024.1:p.Asn140LysfsTer21
ENST00000222284.10:c.419dup MANE Select	ENSP00000222284.4:p.Asn140LysfsTer21
NM_001242597.1:c.272dup	NP_001229526.1:p.Asn91LysfsTer21
NM_001242597.2:c.272dup	NP_001229526.1:p.Asn91LysfsTer21
NM_001242598.1:c.208-100dup	NP_001229527.1:n.208-100dup
NM_001242598.2:c.208-100dup	NP_001229527.1:n.208-100dup
NM_032635.3:c.419dup	NP_116024.1:p.Asn140LysfsTer21
ENST00000222284.9:c.419dup	ENSP00000222284.4:p.Asn140LysfsTer21
ENST00000392204.6:c.272dup	ENSP00000376040.1:p.Asn91LysfsTer21
ENST00000392205.2:c.419dup	ENSP00000376041.1:p.Asn140LysfsTer21
ENST00000477168.6:n.655dup
ENST00000593027.6:c.*11-100dup	ENSP00000466262.1:n.*11-100dup
ENST00000595467.1:n.1362dup
ENST00000599895.1:n.621dup