Canonical Allele Identifier: CA1139655614

Gene: TMEM127

Linked Data

• ClinVar Variation Id: 962576
• ClinVar RCV Id: RCV001236455 ; RCV003373075
• dbSNP Id: rs1684144086
• gnomAD v4: 2-96253911-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96253913del , CM000664.2:g.96253913del	GRCh38
NC_000002.11:g.96919651del , CM000664.1:g.96919651del	GRCh37
NC_000002.10:g.96283378del	NCBI36
NG_027695.1:g.17102del , LRG_528:g.17102del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.613del MANE Select	ENSP00000258439.3:p.Glu205SerfsTer?
ENST00000258439.7:c.613del	ENSP00000258439.2:p.Glu205SerfsTer?
ENST00000432959.1:c.613del	ENSP00000416660.1:p.Glu205SerfsTer?
ENST00000435268.1:c.361del	ENSP00000411810.1:p.Glu121SerfsTer?
NM_001193304.2:c.613del	NP_001180233.1:p.Glu205SerfsTer?
NM_017849.3:c.613del , LRG_528t1:c.613del	NP_060319.1:p.Glu205SerfsTer?
XM_017004450.1:c.-306del	XP_016859939.1:n.-306del
XM_017004452.1:c.361del	XP_016859941.1:p.Glu121SerfsTer?
NM_001193304.3:c.613del	NP_001180233.1:p.Glu205SerfsTer?
NM_017849.4:c.613del MANE Select	NP_060319.1:p.Glu205SerfsTer?