Canonical Allele Identifier: CA2642615489

Gene: TMEM240

Linked Data

• gnomAD v4: 1-1535238-CCCCGGACAACCTGGGCCCAGGGCTGCTGTCCAGTCCCGCCGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1535244_1535285del , CM000663.2:g.1535244_1535285del	GRCh38
NC_000001.10:g.1470624_1470665del , CM000663.1:g.1470624_1470665del	GRCh37
NC_000001.9:g.1460487_1460528del	NCBI36
NG_041807.1:g.10081_10122del
NG_053035.1:g.28102_28143del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378733.9:c.*79_*120del MANE Select	ENSP00000368007.4:n.*79_*120del
ENST00000378733.8:c.*79_*120del	ENSP00000368007.4:n.*79_*120del
ENST00000425828.1:c.*79_*120del	ENSP00000400311.1:n.*79_*120del
NM_001114748.1:c.*79_*120del	NP_001108220.1:n.*79_*120del
NM_001114748.2:c.*79_*120del MANE Select	NP_001108220.1:n.*79_*120del