Canonical Allele Identifier: CA2586964990

Gene: TMEM127

Linked Data

• ClinVar Variation Id: 3227078
• ClinVar RCV Id: RCV004522243

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96254085_96254087del , CM000664.2:g.96254085_96254087del	GRCh38
NC_000002.11:g.96919823_96919825del , CM000664.1:g.96919823_96919825del	GRCh37
NC_000002.10:g.96283550_96283552del	NCBI36
NG_027695.1:g.16929_16931del , LRG_528:g.16929_16931del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.440_442del MANE Select	ENSP00000258439.3:p.Ser147del
ENST00000258439.7:c.440_442del	ENSP00000258439.2:p.Ser147del
ENST00000432959.1:c.440_442del	ENSP00000416660.1:p.Ser147del
ENST00000435268.1:c.188_190del	ENSP00000411810.1:p.Ser63del
NM_001193304.2:c.440_442del	NP_001180233.1:p.Ser147del
NM_017849.3:c.440_442del , LRG_528t1:c.440_442del	NP_060319.1:p.Ser147del
XM_017004450.1:c.-479_-477del	XP_016859939.1:n.-479_-477del
XM_017004452.1:c.188_190del	XP_016859941.1:p.Ser63del
NM_001193304.3:c.440_442del	NP_001180233.1:p.Ser147del
NM_017849.4:c.440_442del MANE Select	NP_060319.1:p.Ser147del