Canonical Allele Identifier: CA2602344478

Gene: TMEM127

Linked Data

• gnomAD v3: 2-96254079-C-CA
• gnomAD v4: 2-96254079-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96254081dup , CM000664.2:g.96254081dup	GRCh38
NC_000002.11:g.96919819dup , CM000664.1:g.96919819dup	GRCh37
NC_000002.10:g.96283546dup	NCBI36
NG_027695.1:g.16934dup , LRG_528:g.16934dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.445dup MANE Select	ENSP00000258439.3:p.Trp149LeufsTer4
ENST00000258439.7:c.445dup	ENSP00000258439.2:p.Trp149LeufsTer4
ENST00000432959.1:c.445dup	ENSP00000416660.1:p.Trp149LeufsTer4
ENST00000435268.1:c.193dup	ENSP00000411810.1:p.Trp65LeufsTer4
NM_001193304.2:c.445dup	NP_001180233.1:p.Trp149LeufsTer4
NM_017849.3:c.445dup , LRG_528t1:c.445dup	NP_060319.1:p.Trp149LeufsTer4
XM_017004450.1:c.-474dup	XP_016859939.1:n.-474dup
XM_017004452.1:c.193dup	XP_016859941.1:p.Trp65LeufsTer4
NM_001193304.3:c.445dup	NP_001180233.1:p.Trp149LeufsTer4
NM_017849.4:c.445dup MANE Select	NP_060319.1:p.Trp149LeufsTer4