Canonical Allele Identifier: CA1272521465

Gene: TMEM127

Linked Data

• dbSNP Id: rs1684112817
• gnomAD v3: 2-96252408-AG-A
• gnomAD v4: 2-96252408-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96252410del , CM000664.2:g.96252410del	GRCh38
NC_000002.11:g.96918148del , CM000664.1:g.96918148del	GRCh37
NC_000002.10:g.96281875del	NCBI36
NG_027695.1:g.18605del , LRG_528:g.18605del

Transcript Alleles

HGVS	Amino-acid change
ENST00000258439.8:c.*1399del MANE Select	ENSP00000258439.3:n.*1399del
ENST00000258439.7:c.*1399del	ENSP00000258439.2:n.*1399del
ENST00000432959.1:c.*1399del	ENSP00000416660.1:n.*1399del
NM_001193304.2:c.*1399del	NP_001180233.1:n.*1399del
NM_017849.3:c.*1399del , LRG_528t1:c.*1399del	NP_060319.1:n.*1399del
XM_017004450.1:c.*700del	XP_016859939.1:n.*700del
XM_017004452.1:c.*1399del	XP_016859941.1:n.*1399del
NM_001193304.3:c.*1399del	NP_001180233.1:n.*1399del
NM_017849.4:c.*1399del MANE Select	NP_060319.1:n.*1399del