Canonical Allele Identifier: CA526669

Gene: TMEM240

Linked Data

• ClinVar Variation Id: 2038888
• ClinVar RCV Id: RCV002895291 ; RCV003903800
• dbSNP Id: rs765411959
• ExAC: 1:1470957 CGAG / C
• gnomAD v2: 1-1470957-CGAG-C
• gnomAD v3: 1-1535577-CGAG-C
• gnomAD v4: 1-1535577-CGAG-C
• MyVariant Identifiers: chr1:g.1470958_1470960del (hg19) ; chr1:g.1535579_1535581del (hg38) ; chr1:g.1535578_1535580del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1535579_1535581del , CM000663.2:g.1535579_1535581del	GRCh38
NC_000001.10:g.1470959_1470961del , CM000663.1:g.1470959_1470961del	GRCh37
NC_000001.9:g.1460822_1460824del	NCBI36
NG_041807.1:g.9781_9783del
NG_053035.1:g.28437_28439del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378733.9:c.373+9_373+11del MANE Select	ENSP00000368007.4:n.373+9_373+11del
ENST00000378733.8:c.373+9_373+11del	ENSP00000368007.4:n.373+9_373+11del
ENST00000425828.1:c.373+9_373+11del	ENSP00000400311.1:n.373+9_373+11del
NM_001114748.1:c.373+9_373+11del	NP_001108220.1:n.373+9_373+11del
NM_001114748.2:c.373+9_373+11del MANE Select	NP_001108220.1:n.373+9_373+11del