Canonical Allele Identifier: CA2580068405

Gene: TMEM127

Linked Data

• ClinVar Variation Id: 2010043
• ClinVar RCV Id: RCV002842877
• gnomAD v4: 2-96255016-A-ATT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96255019_96255020dup , CM000664.2:g.96255019_96255020dup	GRCh38
NC_000002.11:g.96920757_96920758dup , CM000664.1:g.96920757_96920758dup	GRCh37
NC_000002.10:g.96284484_96284485dup	NCBI36
NG_027695.1:g.15996_15997dup , LRG_528:g.15996_15997dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000258439.8:c.245-21_245-20dup MANE Select	ENSP00000258439.3:n.245-21_245-20dup
ENST00000258439.7:c.245-21_245-20dup	ENSP00000258439.2:n.245-21_245-20dup
ENST00000432959.1:c.245-21_245-20dup	ENSP00000416660.1:n.245-21_245-20dup
ENST00000435268.1:c.-8-21_-8-20dup	ENSP00000411810.1:n.-8-21_-8-20dup
NM_001193304.2:c.245-21_245-20dup	NP_001180233.1:n.245-21_245-20dup
NM_017849.3:c.245-21_245-20dup , LRG_528t1:c.245-21_245-20dup	NP_060319.1:n.245-21_245-20dup
XM_017004450.1:c.-674-21_-674-20dup	XP_016859939.1:n.-674-21_-674-20dup
XM_017004452.1:c.-8-21_-8-20dup	XP_016859941.1:n.-8-21_-8-20dup
NM_001193304.3:c.245-21_245-20dup	NP_001180233.1:n.245-21_245-20dup
NM_017849.4:c.245-21_245-20dup MANE Select	NP_060319.1:n.245-21_245-20dup