Canonical Allele Identifier: CA1149192416

Gene: TMEM240

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1535564_1535573delinsCGGGCGGCGG , CM000663.2:g.1535564_1535573delinsCGGGCGGCGG	GRCh38
NC_000001.10:g.1470944_1470953delinsCGGGCGGCGG , CM000663.1:g.1470944_1470953delinsCGGGCGGCGG	GRCh37
NC_000001.9:g.1460807_1460816delinsCGGGCGGCGG	NCBI36
NG_041807.1:g.9788_9797delinsCCGCCGCCCG
NG_053035.1:g.28422_28431delinsCGGGCGGCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378733.9:c.373+16_373+25delinsCCGCCGCCCG MANE Select	ENSP00000368007.4:n.373+16_373+25delinsCCGCCGCCCG
ENST00000378733.8:c.373+16_373+25delinsCCGCCGCCCG	ENSP00000368007.4:n.373+16_373+25delinsCCGCCGCCCG
ENST00000425828.1:c.373+16_373+25delinsCCGCCGCCCG	ENSP00000400311.1:n.373+16_373+25delinsCCGCCGCCCG
NM_001114748.1:c.373+16_373+25delinsCCGCCGCCCG	NP_001108220.1:n.373+16_373+25delinsCCGCCGCCCG
NM_001114748.2:c.373+16_373+25delinsCCGCCGCCCG MANE Select	NP_001108220.1:n.373+16_373+25delinsCCGCCGCCCG