Canonical Allele Identifier: CA2740095671

Gene: TMEM127

Linked Data

• ClinVar Variation Id: 3010801
• ClinVar RCV Id: RCV003862440

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96254038_96254042delinsACTTATGC , CM000664.2:g.96254038_96254042delinsACTTATGC	GRCh38
NC_000002.11:g.96919776_96919780delinsACTTATGC , CM000664.1:g.96919776_96919780delinsACTTATGC	GRCh37
NC_000002.10:g.96283503_96283507delinsACTTATGC	NCBI36
NG_027695.1:g.16972_16976delinsGCATAAGT , LRG_528:g.16972_16976delinsGCATAAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.483_487delinsGCATAAGT MANE Select	ENSP00000258439.3:p.His161GlnfsTer4
ENST00000258439.7:c.483_487delinsGCATAAGT	ENSP00000258439.2:p.His161GlnfsTer4
ENST00000432959.1:c.483_487delinsGCATAAGT	ENSP00000416660.1:p.His161GlnfsTer4
ENST00000435268.1:c.231_235delinsGCATAAGT	ENSP00000411810.1:p.His77GlnfsTer4
NM_001193304.2:c.483_487delinsGCATAAGT	NP_001180233.1:p.His161GlnfsTer4
NM_017849.3:c.483_487delinsGCATAAGT , LRG_528t1:c.483_487delinsGCATAAGT	NP_060319.1:p.His161GlnfsTer4
XM_017004450.1:c.-436_-432delinsGCATAAGT	XP_016859939.1:n.-436_-432delinsGCATAAGT
XM_017004452.1:c.231_235delinsGCATAAGT	XP_016859941.1:p.His77GlnfsTer4
NM_001193304.3:c.483_487delinsGCATAAGT	NP_001180233.1:p.His161GlnfsTer4
NM_017849.4:c.483_487delinsGCATAAGT MANE Select	NP_060319.1:p.His161GlnfsTer4