Canonical Allele Identifier: CA52409531

Gene: TMEM127

Linked Data

• dbSNP Id: rs958123904
• gnomAD v2: 2-96916346-CAA-C
• gnomAD v3: 2-96250608-CAA-C
• gnomAD v4: 2-96250608-CAA-C
• MyVariant Identifiers: chr2:g.96916347_96916348del (hg19) ; chr2:g.96250609_96250610del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96250611_96250612del , CM000664.2:g.96250611_96250612del	GRCh38
NC_000002.11:g.96916349_96916350del , CM000664.1:g.96916349_96916350del	GRCh37
NC_000002.10:g.96280076_96280077del	NCBI36
NG_027695.1:g.20404_20405del , LRG_528:g.20404_20405del

Transcript Alleles

HGVS	Amino-acid change
ENST00000258439.8:c.*3198_*3199del MANE Select	ENSP00000258439.3:n.*3198_*3199del
ENST00000258439.7:c.*3198_*3199del	ENSP00000258439.2:n.*3198_*3199del
NM_001193304.2:c.*3198_*3199del	NP_001180233.1:n.*3198_*3199del
NM_017849.3:c.*3198_*3199del , LRG_528t1:c.*3198_*3199del	NP_060319.1:n.*3198_*3199del
XM_017004450.1:c.*2499_*2500del	XP_016859939.1:n.*2499_*2500del
XM_017004452.1:c.*3198_*3199del	XP_016859941.1:n.*3198_*3199del
NM_001193304.3:c.*3198_*3199del	NP_001180233.1:n.*3198_*3199del
NM_017849.4:c.*3198_*3199del MANE Select	NP_060319.1:n.*3198_*3199del