Canonical Allele Identifier: CA1149191275

Gene: TMEM240

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1535234_1535255delinsACAGCCCCGGACAACCTGGGCC , CM000663.2:g.1535234_1535255delinsACAGCCCCGGACAACCTGGGCC	GRCh38
NC_000001.10:g.1470614_1470635delinsACAGCCCCGGACAACCTGGGCC , CM000663.1:g.1470614_1470635delinsACAGCCCCGGACAACCTGGGCC	GRCh37
NC_000001.9:g.1460477_1460498delinsACAGCCCCGGACAACCTGGGCC	NCBI36
NG_041807.1:g.10106_10127delinsGGCCCAGGTTGTCCGGGGCTGT
NG_053035.1:g.28092_28113delinsACAGCCCCGGACAACCTGGGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378733.9:c.*104_*125delinsGGCCCAGGTTGTCCGGGGCTGT MANE Select	ENSP00000368007.4:n.*104_*125delinsGGCCCAGGTTGTCCGGGGCTGT
ENST00000378733.8:c.*104_*125delinsGGCCCAGGTTGTCCGGGGCTGT	ENSP00000368007.4:n.*104_*125delinsGGCCCAGGTTGTCCGGGGCTGT
ENST00000425828.1:c.*104_*125delinsGGCCCAGGTTGTCCGGGGCTGT	ENSP00000400311.1:n.*104_*125delinsGGCCCAGGTTGTCCGGGGCTGT
NM_001114748.1:c.*104_*125delinsGGCCCAGGTTGTCCGGGGCTGT	NP_001108220.1:n.*104_*125delinsGGCCCAGGTTGTCCGGGGCTGT
NM_001114748.2:c.*104_*125delinsGGCCCAGGTTGTCCGGGGCTGT MANE Select	NP_001108220.1:n.*104_*125delinsGGCCCAGGTTGTCCGGGGCTGT