Canonical Allele Identifier: CA10614632
Gene: TMEM127 HGNC NCBI

Linked Data

ClinVar Variation Id: 337473
ClinVar RCV Id: RCV000259207
dbSNP Id: rs886056439
gnomAD v2: 2-96917659-T-TCAGA
gnomAD v3: 2-96251921-T-TCAGA
gnomAD v4: 2-96251921-T-TCAGA
MyVariant Identifiers: chr2:g.96917660_96917663dupCAGA (hg19) chr2:g.96917659_96917660insCAGA (hg19) chr2:g.96251922_96251925dupCAGA (hg38) chr2:g.96251921_96251922insCAGA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96251924_96251927dup , CM000664.2:g.96251924_96251927dup GRCh38
NC_000002.11:g.96917662_96917665dup , CM000664.1:g.96917662_96917665dup GRCh37
NC_000002.10:g.96281389_96281392dup NCBI36
NG_027695.1:g.19089_19092dup , LRG_528:g.19089_19092dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000258439.8:c.*1883_*1886dup MANE Select ENSP00000258439.3:n.*1883_*1886dup
ENST00000258439.7:c.*1883_*1886dup ENSP00000258439.2:n.*1883_*1886dup
ENST00000432959.1:c.*1883_*1886dup ENSP00000416660.1:n.*1883_*1886dup
NM_001193304.2:c.*1883_*1886dup NP_001180233.1:n.*1883_*1886dup
NM_017849.3:c.*1883_*1886dup , LRG_528t1:c.*1883_*1886dup NP_060319.1:n.*1883_*1886dup
XM_017004450.1:c.*1184_*1187dup XP_016859939.1:n.*1184_*1187dup
XM_017004452.1:c.*1883_*1886dup XP_016859941.1:n.*1883_*1886dup
NM_001193304.3:c.*1883_*1886dup NP_001180233.1:n.*1883_*1886dup
NM_017849.4:c.*1883_*1886dup MANE Select NP_060319.1:n.*1883_*1886dup
Search 100 bp 5'
Search 100 bp 3'