Canonical Allele Identifier: CA895768996

Gene: TMEM127

Linked Data

• dbSNP Id: rs1178140266
• gnomAD v4: 2-96251772-AAAG-A
• MyVariant Identifiers: chr2:g.96917511_96917513del (hg19) ; chr2:g.96251773_96251775del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96251777_96251779del , CM000664.2:g.96251777_96251779del	GRCh38
NC_000002.11:g.96917515_96917517del , CM000664.1:g.96917515_96917517del	GRCh37
NC_000002.10:g.96281242_96281244del	NCBI36
NG_027695.1:g.19239_19241del , LRG_528:g.19239_19241del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.*2033_*2035del MANE Select	ENSP00000258439.3:n.*2033_*2035del
ENST00000258439.7:c.*2033_*2035del	ENSP00000258439.2:n.*2033_*2035del
ENST00000432959.1:c.*2033_*2035del	ENSP00000416660.1:n.*2033_*2035del
NM_001193304.2:c.*2033_*2035del	NP_001180233.1:n.*2033_*2035del
NM_017849.3:c.*2033_*2035del , LRG_528t1:c.*2033_*2035del	NP_060319.1:n.*2033_*2035del
XM_017004450.1:c.*1334_*1336del	XP_016859939.1:n.*1334_*1336del
XM_017004452.1:c.*2033_*2035del	XP_016859941.1:n.*2033_*2035del
NM_001193304.3:c.*2033_*2035del	NP_001180233.1:n.*2033_*2035del
NM_017849.4:c.*2033_*2035del MANE Select	NP_060319.1:n.*2033_*2035del