Canonical Allele Identifier: CA1033956994

Gene: TMEM127

Linked Data

• dbSNP Id: rs1684073102
• gnomAD v3: 2-96250863-TGAAG-T
• gnomAD v4: 2-96250863-TGAAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96250867_96250870del , CM000664.2:g.96250867_96250870del	GRCh38
NC_000002.11:g.96916605_96916608del , CM000664.1:g.96916605_96916608del	GRCh37
NC_000002.10:g.96280332_96280335del	NCBI36
NG_027695.1:g.20147_20150del , LRG_528:g.20147_20150del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.*2941_*2944del MANE Select	ENSP00000258439.3:n.*2941_*2944del
ENST00000258439.7:c.*2941_*2944del	ENSP00000258439.2:n.*2941_*2944del
NM_001193304.2:c.*2941_*2944del	NP_001180233.1:n.*2941_*2944del
NM_017849.3:c.*2941_*2944del , LRG_528t1:c.*2941_*2944del	NP_060319.1:n.*2941_*2944del
XM_017004450.1:c.*2242_*2245del	XP_016859939.1:n.*2242_*2245del
XM_017004452.1:c.*2941_*2944del	XP_016859941.1:n.*2941_*2944del
NM_001193304.3:c.*2941_*2944del	NP_001180233.1:n.*2941_*2944del
NM_017849.4:c.*2941_*2944del MANE Select	NP_060319.1:n.*2941_*2944del