Canonical Allele Identifier: CA1033956972

Gene: TMEM127

Linked Data

• dbSNP Id: rs1684071682
• gnomAD v3: 2-96250795-CTA-C
• gnomAD v4: 2-96250795-CTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96250797_96250798del , CM000664.2:g.96250797_96250798del	GRCh38
NC_000002.11:g.96916535_96916536del , CM000664.1:g.96916535_96916536del	GRCh37
NC_000002.10:g.96280262_96280263del	NCBI36
NG_027695.1:g.20217_20218del , LRG_528:g.20217_20218del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.*3011_*3012del MANE Select	ENSP00000258439.3:n.*3011_*3012del
ENST00000258439.7:c.*3011_*3012del	ENSP00000258439.2:n.*3011_*3012del
NM_001193304.2:c.*3011_*3012del	NP_001180233.1:n.*3011_*3012del
NM_017849.3:c.*3011_*3012del , LRG_528t1:c.*3011_*3012del	NP_060319.1:n.*3011_*3012del
XM_017004450.1:c.*2312_*2313del	XP_016859939.1:n.*2312_*2313del
XM_017004452.1:c.*3011_*3012del	XP_016859941.1:n.*3011_*3012del
NM_001193304.3:c.*3011_*3012del	NP_001180233.1:n.*3011_*3012del
NM_017849.4:c.*3011_*3012del MANE Select	NP_060319.1:n.*3011_*3012del