Canonical Allele Identifier: CA1272521069
Gene: TMEM127 HGNC NCBI

Linked Data

dbSNP Id: rs1684087705
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96251528_96251530del , CM000664.2:g.96251528_96251530del GRCh38
NC_000002.11:g.96917266_96917268del , CM000664.1:g.96917266_96917268del GRCh37
NC_000002.10:g.96280993_96280995del NCBI36
NG_027695.1:g.19486_19488del , LRG_528:g.19486_19488del

Transcript Alleles

HGVS Amino-acid Change
ENST00000258439.8:c.*2280_*2282del MANE Select ENSP00000258439.3:n.*2280_*2282del
ENST00000258439.7:c.*2280_*2282del ENSP00000258439.2:n.*2280_*2282del
NM_001193304.2:c.*2280_*2282del NP_001180233.1:n.*2280_*2282del
NM_017849.3:c.*2280_*2282del , LRG_528t1:c.*2280_*2282del NP_060319.1:n.*2280_*2282del
XM_017004450.1:c.*1581_*1583del XP_016859939.1:n.*1581_*1583del
XM_017004452.1:c.*2280_*2282del XP_016859941.1:n.*2280_*2282del
NM_001193304.3:c.*2280_*2282del NP_001180233.1:n.*2280_*2282del
NM_017849.4:c.*2280_*2282del MANE Select NP_060319.1:n.*2280_*2282del
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