Canonical Allele Identifier: CA658657048

Gene: TMEM127

Linked Data

• ClinVar Variation Id: 463843
• ClinVar RCV Id: RCV000545315
• dbSNP Id: rs1553437028
• MyVariant Identifiers: chr2:g.96920697del (hg19) ; chr2:g.96254959del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96254961del , CM000664.2:g.96254961del	GRCh38
NC_000002.11:g.96920699del , CM000664.1:g.96920699del	GRCh37
NC_000002.10:g.96284426del	NCBI36
NG_027695.1:g.16055del , LRG_528:g.16055del

Transcript Alleles

HGVS	Amino-acid change
ENST00000258439.8:c.283del MANE Select	ENSP00000258439.3:p.Val95SerfsTer29
ENST00000258439.7:c.283del	ENSP00000258439.2:p.Val95SerfsTer29
ENST00000432959.1:c.283del	ENSP00000416660.1:p.Val95SerfsTer29
ENST00000435268.1:c.31del	ENSP00000411810.1:p.Val11SerfsTer29
NM_001193304.2:c.283del	NP_001180233.1:p.Val95SerfsTer29
NM_017849.3:c.283del , LRG_528t1:c.283del	NP_060319.1:p.Val95SerfsTer29
XM_017004450.1:c.-636del	XP_016859939.1:n.-636del
XM_017004452.1:c.31del	XP_016859941.1:p.Val11SerfsTer29
NM_001193304.3:c.283del	NP_001180233.1:p.Val95SerfsTer29
NM_017849.4:c.283del MANE Select	NP_060319.1:p.Val95SerfsTer29