Canonical Allele Identifier: CA526619
Gene: TMEM240 HGNC NCBI

Linked Data

dbSNP Id: rs766597268
ExAC: 1:1470711 CGGT / C
gnomAD v2: 1-1470711-CGGT-C
gnomAD v3: 1-1535331-CGGT-C
gnomAD v4: 1-1535331-CGGT-C
MyVariant Identifiers: chr1:g.1470712_1470714del (hg19) chr1:g.1535332_1535334del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1535334_1535336del , CM000663.2:g.1535334_1535336del GRCh38
NC_000001.10:g.1470714_1470716del , CM000663.1:g.1470714_1470716del GRCh37
NC_000001.9:g.1460577_1460579del NCBI36
NG_041807.1:g.10027_10029del
NG_053035.1:g.28192_28194del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378733.9:c.*25_*27del MANE Select ENSP00000368007.4:n.*25_*27del
ENST00000378733.8:c.*25_*27del ENSP00000368007.4:n.*25_*27del
ENST00000425828.1:c.*25_*27del ENSP00000400311.1:n.*25_*27del
NM_001114748.1:c.*25_*27del NP_001108220.1:n.*25_*27del
NM_001114748.2:c.*25_*27del MANE Select NP_001108220.1:n.*25_*27del
Search 100 bp 5'
Search 100 bp 3'