Canonical Allele Identifier: CA2642615526

Gene: TMEM240

Linked Data

• gnomAD v4: 1-1535283-C-CAGCTCCCGCAGGCTGCACAGCTT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1535283_1535284insAGCTCCCGCAGGCTGCACAGCTT , CM000663.2:g.1535283_1535284insAGCTCCCGCAGGCTGCACAGCTT	GRCh38
NC_000001.10:g.1470663_1470664insAGCTCCCGCAGGCTGCACAGCTT , CM000663.1:g.1470663_1470664insAGCTCCCGCAGGCTGCACAGCTT	GRCh37
NC_000001.9:g.1460526_1460527insAGCTCCCGCAGGCTGCACAGCTT	NCBI36
NG_041807.1:g.10077_10078insAAGCTGTGCAGCCTGCGGGAGCT
NG_053035.1:g.28141_28142insAGCTCCCGCAGGCTGCACAGCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378733.9:c.*75_*76insAAGCTGTGCAGCCTGCGGGAGCT MANE Select	ENSP00000368007.4:n.*75_*76insAAGCTGTGCAGCCTGCGGGAGCT
ENST00000378733.8:c.*75_*76insAAGCTGTGCAGCCTGCGGGAGCT	ENSP00000368007.4:n.*75_*76insAAGCTGTGCAGCCTGCGGGAGCT
ENST00000425828.1:c.*75_*76insAAGCTGTGCAGCCTGCGGGAGCT	ENSP00000400311.1:n.*75_*76insAAGCTGTGCAGCCTGCGGGAGCT
NM_001114748.1:c.*75_*76insAAGCTGTGCAGCCTGCGGGAGCT	NP_001108220.1:n.*75_*76insAAGCTGTGCAGCCTGCGGGAGCT
NM_001114748.2:c.*75_*76insAAGCTGTGCAGCCTGCGGGAGCT MANE Select	NP_001108220.1:n.*75_*76insAAGCTGTGCAGCCTGCGGGAGCT