Canonical Allele Identifier: CA2642615567
Gene: TMEM240 HGNC NCBI

Linked Data

gnomAD v4: 1-1535431-CT-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1535432del , CM000663.2:g.1535432del GRCh38
NC_000001.10:g.1470812del , CM000663.1:g.1470812del GRCh37
NC_000001.9:g.1460675del NCBI36
NG_041807.1:g.9929del
NG_053035.1:g.28290del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378733.9:c.449del MANE Select ENSP00000368007.4:p.Glu150GlyfsTer9
ENST00000378733.8:c.449del ENSP00000368007.4:p.Glu150GlyfsTer9
ENST00000425828.1:c.449del ENSP00000400311.1:p.Glu150GlyfsTer9
NM_001114748.1:c.449del NP_001108220.1:p.Glu150GlyfsTer9
NM_001114748.2:c.449del MANE Select NP_001108220.1:p.Glu150GlyfsTer9