Canonical Allele Identifier: CA2574171568
Gene: TMEM240 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1535304_1535305del , CM000663.2:g.1535304_1535305del GRCh38
NC_000001.10:g.1470684_1470685del , CM000663.1:g.1470684_1470685del GRCh37
NC_000001.9:g.1460547_1460548del NCBI36
NG_041807.1:g.10058_10059del
NG_053035.1:g.28162_28163del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378733.9:c.*56_*57del MANE Select ENSP00000368007.4:n.*56_*57del
ENST00000378733.8:c.*56_*57del ENSP00000368007.4:n.*56_*57del
ENST00000425828.1:c.*56_*57del ENSP00000400311.1:n.*56_*57del
NM_001114748.1:c.*56_*57del NP_001108220.1:n.*56_*57del
NM_001114748.2:c.*56_*57del MANE Select NP_001108220.1:n.*56_*57del