Canonical Allele Identifier: CA2660177356

Gene: TMEM127

Linked Data

• gnomAD v4: 2-96254054-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96254055del , CM000664.2:g.96254055del	GRCh38
NC_000002.11:g.96919793del , CM000664.1:g.96919793del	GRCh37
NC_000002.10:g.96283520del	NCBI36
NG_027695.1:g.16959del , LRG_528:g.16959del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.470del MANE Select	ENSP00000258439.3:p.Gln157ArgfsTer?
ENST00000258439.7:c.470del	ENSP00000258439.2:p.Gln157ArgfsTer?
ENST00000432959.1:c.470del	ENSP00000416660.1:p.Gln157ArgfsTer?
ENST00000435268.1:c.218del	ENSP00000411810.1:p.Gln73ArgfsTer?
NM_001193304.2:c.470del	NP_001180233.1:p.Gln157ArgfsTer?
NM_017849.3:c.470del , LRG_528t1:c.470del	NP_060319.1:p.Gln157ArgfsTer?
XM_017004450.1:c.-449del	XP_016859939.1:n.-449del
XM_017004452.1:c.218del	XP_016859941.1:p.Gln73ArgfsTer?
NM_001193304.3:c.470del	NP_001180233.1:p.Gln157ArgfsTer?
NM_017849.4:c.470del MANE Select	NP_060319.1:p.Gln157ArgfsTer?