Canonical Allele Identifier: CA2580068312

Gene: TMEM127

Linked Data

• ClinVar Variation Id: 1749907
• ClinVar RCV Id: RCV002353174
• gnomAD v4: 2-96265261-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96265262dup , CM000664.2:g.96265262dup	GRCh38
NC_000002.11:g.96931000dup , CM000664.1:g.96931000dup	GRCh37
NC_000002.10:g.96294727dup	NCBI36
NG_027695.1:g.5752dup , LRG_528:g.5752dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.120dup MANE Select	ENSP00000258439.3:p.Ile41TyrfsTer?
ENST00000258439.7:c.120dup	ENSP00000258439.2:p.Ile41TyrfsTer?
ENST00000432959.1:c.120dup	ENSP00000416660.1:p.Ile41TyrfsTer?
NM_001193304.2:c.120dup	NP_001180233.1:p.Ile41TyrfsTer?
NM_017849.3:c.120dup , LRG_528t1:c.120dup	NP_060319.1:p.Ile41TyrfsTer?
NM_001193304.3:c.120dup	NP_001180233.1:p.Ile41TyrfsTer?
NM_017849.4:c.120dup MANE Select	NP_060319.1:p.Ile41TyrfsTer?