Canonical Allele Identifier: CA534634903

Gene: TMEM127

Linked Data

• dbSNP Id: rs1558752003
• gnomAD v2: 2-96919865-AG-A
• gnomAD v4: 2-96254127-AG-A
• MyVariant Identifiers: chr2:g.96919866del (hg19) ; chr2:g.96254128del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96254130del , CM000664.2:g.96254130del	GRCh38
NC_000002.11:g.96919868del , CM000664.1:g.96919868del	GRCh37
NC_000002.10:g.96283595del	NCBI36
NG_027695.1:g.16886del , LRG_528:g.16886del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.410-13del MANE Select	ENSP00000258439.3:n.410-13del
ENST00000258439.7:c.410-13del	ENSP00000258439.2:n.410-13del
ENST00000432959.1:c.410-13del	ENSP00000416660.1:n.410-13del
ENST00000435268.1:c.158-13del	ENSP00000411810.1:n.158-13del
NM_001193304.2:c.410-13del	NP_001180233.1:n.410-13del
NM_017849.3:c.410-13del , LRG_528t1:c.410-13del	NP_060319.1:n.410-13del
XM_017004450.1:c.-509-13del	XP_016859939.1:n.-509-13del
XM_017004452.1:c.158-13del	XP_016859941.1:n.158-13del
NM_001193304.3:c.410-13del	NP_001180233.1:n.410-13del
NM_017849.4:c.410-13del MANE Select	NP_060319.1:n.410-13del