Canonical Allele Identifier: CA2697550983
Gene: TMEM127 HGNC NCBI

Linked Data

ClinVar Variation Id: 2699377
ClinVar RCV Id: RCV003517932
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96254086_96254090del , CM000664.2:g.96254086_96254090del GRCh38
NC_000002.11:g.96919824_96919828del , CM000664.1:g.96919824_96919828del GRCh37
NC_000002.10:g.96283551_96283555del NCBI36
NG_027695.1:g.16927_16931del , LRG_528:g.16927_16931del

Transcript Alleles

HGVS Amino-acid change
ENST00000258439.8:c.438_442del MANE Select ENSP00000258439.3:p.Phe146LeufsTer5
ENST00000258439.7:c.438_442del ENSP00000258439.2:p.Phe146LeufsTer5
ENST00000432959.1:c.438_442del ENSP00000416660.1:p.Phe146LeufsTer5
ENST00000435268.1:c.186_190del ENSP00000411810.1:p.Phe62LeufsTer5
NM_001193304.2:c.438_442del NP_001180233.1:p.Phe146LeufsTer5
NM_017849.3:c.438_442del , LRG_528t1:c.438_442del NP_060319.1:p.Phe146LeufsTer5
XM_017004450.1:c.-481_-477del XP_016859939.1:n.-481_-477del
XM_017004452.1:c.186_190del XP_016859941.1:p.Phe62LeufsTer5
NM_001193304.3:c.438_442del NP_001180233.1:p.Phe146LeufsTer5
NM_017849.4:c.438_442del MANE Select NP_060319.1:p.Phe146LeufsTer5
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