Canonical Allele Identifier: CA2573135956
Gene: TMEM127 HGNC NCBI

Linked Data

ClinVar Variation Id: 1446027
ClinVar RCV Id: RCV001985357
dbSNP Id: rs2104287651
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96254952del , CM000664.2:g.96254952del GRCh38
NC_000002.11:g.96920690del , CM000664.1:g.96920690del GRCh37
NC_000002.10:g.96284417del NCBI36
NG_027695.1:g.16063del , LRG_528:g.16063del

Transcript Alleles

HGVS Amino-acid Change
ENST00000258439.8:c.291del MANE Select ENSP00000258439.3:p.Ala98ProfsTer26
ENST00000258439.7:c.291del ENSP00000258439.2:p.Ala98ProfsTer26
ENST00000432959.1:c.291del ENSP00000416660.1:p.Ala98ProfsTer26
ENST00000435268.1:c.39del ENSP00000411810.1:p.Ala14ProfsTer26
NM_001193304.2:c.291del NP_001180233.1:p.Ala98ProfsTer26
NM_017849.3:c.291del , LRG_528t1:c.291del NP_060319.1:p.Ala98ProfsTer26
XM_017004450.1:c.-628del XP_016859939.1:n.-628del
XM_017004452.1:c.39del XP_016859941.1:p.Ala14ProfsTer26
NM_001193304.3:c.291del NP_001180233.1:p.Ala98ProfsTer26
NM_017849.4:c.291del MANE Select NP_060319.1:p.Ala98ProfsTer26
Search 100 bp 5'
Search 100 bp 3'