Canonical Allele Identifier: CA1033957272

Gene: TMEM127

Linked Data

• dbSNP Id: rs1684091690
• gnomAD v3: 2-96251688-TTTTAA-T
• gnomAD v4: 2-96251688-TTTTAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96251692_96251696del , CM000664.2:g.96251692_96251696del	GRCh38
NC_000002.11:g.96917430_96917434del , CM000664.1:g.96917430_96917434del	GRCh37
NC_000002.10:g.96281157_96281161del	NCBI36
NG_027695.1:g.19321_19325del , LRG_528:g.19321_19325del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.*2115_*2119del MANE Select	ENSP00000258439.3:n.*2115_*2119del
ENST00000258439.7:c.*2115_*2119del	ENSP00000258439.2:n.*2115_*2119del
ENST00000432959.1:c.*2115_*2119del	ENSP00000416660.1:n.*2115_*2119del
NM_001193304.2:c.*2115_*2119del	NP_001180233.1:n.*2115_*2119del
NM_017849.3:c.*2115_*2119del , LRG_528t1:c.*2115_*2119del	NP_060319.1:n.*2115_*2119del
XM_017004450.1:c.*1416_*1420del	XP_016859939.1:n.*1416_*1420del
XM_017004452.1:c.*2115_*2119del	XP_016859941.1:n.*2115_*2119del
NM_001193304.3:c.*2115_*2119del	NP_001180233.1:n.*2115_*2119del
NM_017849.4:c.*2115_*2119del MANE Select	NP_060319.1:n.*2115_*2119del