Canonical Allele Identifier: CA521010115
Gene: TMEM240 HGNC NCBI

Linked Data

dbSNP Id: rs1195375910
gnomAD v2: 1-1471142-T-TC
gnomAD v4: 1-1535762-T-TC
MyVariant Identifiers: chr1:g.1471142_1471143insC (hg19) chr1:g.1535762_1535763insC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1535766dup , CM000663.2:g.1535766dup GRCh38
NC_000001.10:g.1471146dup , CM000663.1:g.1471146dup GRCh37
NC_000001.9:g.1461009dup NCBI36
NG_041807.1:g.9598dup
NG_053035.1:g.28624dup

Transcript Alleles

HGVS Amino-acid change
ENST00000378733.9:c.199dup MANE Select ENSP00000368007.4:p.Asp67GlyfsTer?
ENST00000378733.8:c.199dup ENSP00000368007.4:p.Asp67GlyfsTer?
ENST00000425828.1:c.199dup ENSP00000400311.1:p.Asp67GlyfsTer?
NM_001114748.1:c.199dup NP_001108220.1:p.Asp67GlyfsTer?
NM_001114748.2:c.199dup MANE Select NP_001108220.1:p.Asp67GlyfsTer?
Search 100 bp 5'
Search 100 bp 3'