Canonical Allele Identifier: CA534634901

Gene: TMEM127

Linked Data

• ClinVar Variation Id: 1097775
• ClinVar RCV Id: RCV001419500
• dbSNP Id: rs1437132124
• gnomAD v2: 2-96919862-CA-C
• gnomAD v4: 2-96254124-CA-C
• MyVariant Identifiers: chr2:g.96919863del (hg19) ; chr2:g.96254125del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96254125del , CM000664.2:g.96254125del	GRCh38
NC_000002.11:g.96919863del , CM000664.1:g.96919863del	GRCh37
NC_000002.10:g.96283590del	NCBI36
NG_027695.1:g.16889del , LRG_528:g.16889del

Transcript Alleles

HGVS	Amino-acid change
ENST00000258439.8:c.410-10del MANE Select	ENSP00000258439.3:n.410-10del
ENST00000258439.7:c.410-10del	ENSP00000258439.2:n.410-10del
ENST00000432959.1:c.410-10del	ENSP00000416660.1:n.410-10del
ENST00000435268.1:c.158-10del	ENSP00000411810.1:n.158-10del
NM_001193304.2:c.410-10del	NP_001180233.1:n.410-10del
NM_017849.3:c.410-10del , LRG_528t1:c.410-10del	NP_060319.1:n.410-10del
XM_017004450.1:c.-509-10del	XP_016859939.1:n.-509-10del
XM_017004452.1:c.158-10del	XP_016859941.1:n.158-10del
NM_001193304.3:c.410-10del	NP_001180233.1:n.410-10del
NM_017849.4:c.410-10del MANE Select	NP_060319.1:n.410-10del