Canonical Allele Identifier: CA2660178148

Gene: TMEM127

Linked Data

• gnomAD v4: 2-96254928-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96254930dup , CM000664.2:g.96254930dup	GRCh38
NC_000002.11:g.96920668dup , CM000664.1:g.96920668dup	GRCh37
NC_000002.10:g.96284395dup	NCBI36
NG_027695.1:g.16085dup , LRG_528:g.16085dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.313dup MANE Select	ENSP00000258439.3:p.Leu105ProfsTer3
ENST00000258439.7:c.313dup	ENSP00000258439.2:p.Leu105ProfsTer3
ENST00000432959.1:c.313dup	ENSP00000416660.1:p.Leu105ProfsTer3
ENST00000435268.1:c.61dup	ENSP00000411810.1:p.Leu21ProfsTer3
NM_001193304.2:c.313dup	NP_001180233.1:p.Leu105ProfsTer3
NM_017849.3:c.313dup , LRG_528t1:c.313dup	NP_060319.1:p.Leu105ProfsTer3
XM_017004450.1:c.-606dup	XP_016859939.1:n.-606dup
XM_017004452.1:c.61dup	XP_016859941.1:p.Leu21ProfsTer3
NM_001193304.3:c.313dup	NP_001180233.1:p.Leu105ProfsTer3
NM_017849.4:c.313dup MANE Select	NP_060319.1:p.Leu105ProfsTer3