Canonical Allele Identifier: CA520626268
Gene: TMEM240 HGNC NCBI

Linked Data

dbSNP Id: rs1477820812
gnomAD v2: 1-1470716-G-GT
gnomAD v4: 1-1535336-G-GT

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1535336_1535337insT , CM000663.2:g.1535336_1535337insT GRCh38
NC_000001.10:g.1470716_1470717insT , CM000663.1:g.1470716_1470717insT GRCh37
NC_000001.9:g.1460579_1460580insT NCBI36
NG_041807.1:g.10024_10025insA
NG_053035.1:g.28194_28195insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000378733.9:c.*22_*23insA MANE Select ENSP00000368007.4:n.*22_*23insA
ENST00000378733.8:c.*22_*23insA ENSP00000368007.4:n.*22_*23insA
ENST00000425828.1:c.*22_*23insA ENSP00000400311.1:n.*22_*23insA
NM_001114748.1:c.*22_*23insA NP_001108220.1:n.*22_*23insA
NM_001114748.2:c.*22_*23insA MANE Select NP_001108220.1:n.*22_*23insA