Canonical Allele Identifier: CA2580068320
Gene: TMEM127 HGNC NCBI

Linked Data

ClinVar Variation Id: 2067151
ClinVar RCV Id: RCV002966333
gnomAD v4: 2-96254127-A-AGG
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96254129_96254130dup , CM000664.2:g.96254129_96254130dup GRCh38
NC_000002.11:g.96919867_96919868dup , CM000664.1:g.96919867_96919868dup GRCh37
NC_000002.10:g.96283594_96283595dup NCBI36
NG_027695.1:g.16885_16886dup , LRG_528:g.16885_16886dup

Transcript Alleles

HGVS Amino-acid change
ENST00000258439.8:c.410-14_410-13dup MANE Select ENSP00000258439.3:n.410-14_410-13dup
ENST00000258439.7:c.410-14_410-13dup ENSP00000258439.2:n.410-14_410-13dup
ENST00000432959.1:c.410-14_410-13dup ENSP00000416660.1:n.410-14_410-13dup
ENST00000435268.1:c.158-14_158-13dup ENSP00000411810.1:n.158-14_158-13dup
NM_001193304.2:c.410-14_410-13dup NP_001180233.1:n.410-14_410-13dup
NM_017849.3:c.410-14_410-13dup , LRG_528t1:c.410-14_410-13dup NP_060319.1:n.410-14_410-13dup
XM_017004450.1:c.-509-14_-509-13dup XP_016859939.1:n.-509-14_-509-13dup
XM_017004452.1:c.158-14_158-13dup XP_016859941.1:n.158-14_158-13dup
NM_001193304.3:c.410-14_410-13dup NP_001180233.1:n.410-14_410-13dup
NM_017849.4:c.410-14_410-13dup MANE Select NP_060319.1:n.410-14_410-13dup
Search 100 bp 5'
Search 100 bp 3'