Canonical Allele Identifier: CA2602344456

Gene: TMEM127

Linked Data

• gnomAD v3: 2-96251927-AC-A
• gnomAD v4: 2-96251927-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96251930del , CM000664.2:g.96251930del	GRCh38
NC_000002.11:g.96917668del , CM000664.1:g.96917668del	GRCh37
NC_000002.10:g.96281395del	NCBI36
NG_027695.1:g.19086del , LRG_528:g.19086del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.*1880del MANE Select	ENSP00000258439.3:n.*1880del
ENST00000258439.7:c.*1880del	ENSP00000258439.2:n.*1880del
ENST00000432959.1:c.*1880del	ENSP00000416660.1:n.*1880del
NM_001193304.2:c.*1880del	NP_001180233.1:n.*1880del
NM_017849.3:c.*1880del , LRG_528t1:c.*1880del	NP_060319.1:n.*1880del
XM_017004450.1:c.*1181del	XP_016859939.1:n.*1181del
XM_017004452.1:c.*1880del	XP_016859941.1:n.*1880del
NM_001193304.3:c.*1880del	NP_001180233.1:n.*1880del
NM_017849.4:c.*1880del MANE Select	NP_060319.1:n.*1880del