Canonical Allele Identifier: CA658683087

Gene: TMEM127

Linked Data

• ClinVar Variation Id: 575997
• ClinVar RCV Id: RCV000698368
• dbSNP Id: rs1558752468
• MyVariant Identifiers: chr2:g.96920643del (hg19) ; chr2:g.96254905del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96254905del , CM000664.2:g.96254905del	GRCh38
NC_000002.11:g.96920643del , CM000664.1:g.96920643del	GRCh37
NC_000002.10:g.96284370del	NCBI36
NG_027695.1:g.16109del , LRG_528:g.16109del

Transcript Alleles

HGVS	Amino-acid change
ENST00000258439.8:c.337del MANE Select	ENSP00000258439.3:p.Leu113TrpfsTer11
ENST00000258439.7:c.337del	ENSP00000258439.2:p.Leu113TrpfsTer11
ENST00000432959.1:c.337del	ENSP00000416660.1:p.Leu113TrpfsTer11
ENST00000435268.1:c.85del	ENSP00000411810.1:p.Leu29TrpfsTer11
NM_001193304.2:c.337del	NP_001180233.1:p.Leu113TrpfsTer11
NM_017849.3:c.337del , LRG_528t1:c.337del	NP_060319.1:p.Leu113TrpfsTer11
XM_017004450.1:c.-582del	XP_016859939.1:n.-582del
XM_017004452.1:c.85del	XP_016859941.1:p.Leu29TrpfsTer11
NM_001193304.3:c.337del	NP_001180233.1:p.Leu113TrpfsTer11
NM_017849.4:c.337del MANE Select	NP_060319.1:p.Leu113TrpfsTer11