Canonical Allele Identifier: CA889464621

Gene: TMEM240

Linked Data

• dbSNP Id: rs1490939157
• gnomAD v3: 1-1535548-AGGGCGGCAGCACTCCC-A
• gnomAD v4: 1-1535548-AGGGCGGCAGCACTCCC-A
• MyVariant Identifiers: chr1:g.1470929_1470944del (hg19) ; chr1:g.1535549_1535564del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1535556_1535571del , CM000663.2:g.1535556_1535571del	GRCh38
NC_000001.10:g.1470936_1470951del , CM000663.1:g.1470936_1470951del	GRCh37
NC_000001.9:g.1460799_1460814del	NCBI36
NG_041807.1:g.9797_9812del
NG_053035.1:g.28414_28429del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378733.9:c.373+25_373+40del MANE Select	ENSP00000368007.4:n.373+25_373+40del
ENST00000378733.8:c.373+25_373+40del	ENSP00000368007.4:n.373+25_373+40del
ENST00000425828.1:c.373+25_373+40del	ENSP00000400311.1:n.373+25_373+40del
NM_001114748.1:c.373+25_373+40del	NP_001108220.1:n.373+25_373+40del
NM_001114748.2:c.373+25_373+40del MANE Select	NP_001108220.1:n.373+25_373+40del