Canonical Allele Identifier: CA895768873

Gene: TMEM127

Linked Data

• dbSNP Id: rs1342993635
• gnomAD v3: 2-96251576-TGA-T
• gnomAD v4: 2-96251576-TGA-T
• MyVariant Identifiers: chr2:g.96917315_96917316del (hg19) ; chr2:g.96251577_96251578del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96251579_96251580del , CM000664.2:g.96251579_96251580del	GRCh38
NC_000002.11:g.96917317_96917318del , CM000664.1:g.96917317_96917318del	GRCh37
NC_000002.10:g.96281044_96281045del	NCBI36
NG_027695.1:g.19436_19437del , LRG_528:g.19436_19437del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.*2230_*2231del MANE Select	ENSP00000258439.3:n.*2230_*2231del
ENST00000258439.7:c.*2230_*2231del	ENSP00000258439.2:n.*2230_*2231del
NM_001193304.2:c.*2230_*2231del	NP_001180233.1:n.*2230_*2231del
NM_017849.3:c.*2230_*2231del , LRG_528t1:c.*2230_*2231del	NP_060319.1:n.*2230_*2231del
XM_017004450.1:c.*1531_*1532del	XP_016859939.1:n.*1531_*1532del
XM_017004452.1:c.*2230_*2231del	XP_016859941.1:n.*2230_*2231del
NM_001193304.3:c.*2230_*2231del	NP_001180233.1:n.*2230_*2231del
NM_017849.4:c.*2230_*2231del MANE Select	NP_060319.1:n.*2230_*2231del