Canonical Allele Identifier: CA895717480

Gene: TMEM127

Linked Data

• ClinVar Variation Id: 1619846
• ClinVar RCV Id: RCV002089157
• dbSNP Id: rs1444758693
• MyVariant Identifiers: chr2:g.96919871del (hg19) ; chr2:g.96254133del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96254133del , CM000664.2:g.96254133del	GRCh38
NC_000002.11:g.96919871del , CM000664.1:g.96919871del	GRCh37
NC_000002.10:g.96283598del	NCBI36
NG_027695.1:g.16881del , LRG_528:g.16881del

Transcript Alleles

HGVS	Amino-acid change
ENST00000258439.8:c.410-18del MANE Select	ENSP00000258439.3:n.410-18del
ENST00000258439.7:c.410-18del	ENSP00000258439.2:n.410-18del
ENST00000432959.1:c.410-18del	ENSP00000416660.1:n.410-18del
ENST00000435268.1:c.158-18del	ENSP00000411810.1:n.158-18del
NM_001193304.2:c.410-18del	NP_001180233.1:n.410-18del
NM_017849.3:c.410-18del , LRG_528t1:c.410-18del	NP_060319.1:n.410-18del
XM_017004450.1:c.-509-18del	XP_016859939.1:n.-509-18del
XM_017004452.1:c.158-18del	XP_016859941.1:n.158-18del
NM_001193304.3:c.410-18del	NP_001180233.1:n.410-18del
NM_017849.4:c.410-18del MANE Select	NP_060319.1:n.410-18del