Canonical Allele Identifier: CA534371015

Gene: TMEM127

Linked Data

• dbSNP Id: rs1270811774
• gnomAD v2: 2-96920734-ATC-A
• gnomAD v4: 2-96254996-ATC-A
• MyVariant Identifiers: chr2:g.96920735_96920736del (hg19) ; chr2:g.96254997_96254998del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96254998_96254999del , CM000664.2:g.96254998_96254999del	GRCh38
NC_000002.11:g.96920736_96920737del , CM000664.1:g.96920736_96920737del	GRCh37
NC_000002.10:g.96284463_96284464del	NCBI36
NG_027695.1:g.16016_16017del , LRG_528:g.16016_16017del

Transcript Alleles

HGVS	Amino-acid change
ENST00000258439.8:c.245-1_245del
ENST00000258439.7:c.245-1_245del
ENST00000432959.1:c.245-1_245del
ENST00000435268.1:c.-8-1_-8del
NM_001193304.2:c.245-1_245del
NM_017849.3:c.245-1_245del , LRG_528t1:c.245-1_245del
XM_017004450.1:c.-674-1_-674del
XM_017004452.1:c.-8-1_-8del
NM_001193304.3:c.245-1_245del
NM_017849.4:c.245-1_245del