Canonical Allele Identifier: CA895768445

Gene: TMEM127

Linked Data

• dbSNP Id: rs1305475943
• gnomAD v3: 2-96250580-GA-G
• gnomAD v4: 2-96250580-GA-G
• MyVariant Identifiers: chr2:g.96916319del (hg19) ; chr2:g.96250581del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96250583del , CM000664.2:g.96250583del	GRCh38
NC_000002.11:g.96916321del , CM000664.1:g.96916321del	GRCh37
NC_000002.10:g.96280048del	NCBI36
NG_027695.1:g.20433del , LRG_528:g.20433del

Transcript Alleles

HGVS	Amino-acid change
ENST00000258439.8:c.*3227del MANE Select	ENSP00000258439.3:n.*3227del
ENST00000258439.7:c.*3227del	ENSP00000258439.2:n.*3227del
NM_001193304.2:c.*3227del	NP_001180233.1:n.*3227del
NM_017849.3:c.*3227del , LRG_528t1:c.*3227del	NP_060319.1:n.*3227del
XM_017004450.1:c.*2528del	XP_016859939.1:n.*2528del
XM_017004452.1:c.*3227del	XP_016859941.1:n.*3227del
NM_001193304.3:c.*3227del	NP_001180233.1:n.*3227del
NM_017849.4:c.*3227del MANE Select	NP_060319.1:n.*3227del