Canonical Allele Identifier: CA913090559
Gene: EPCAM HGNC NCBI

Linked Data

gnomAD v4: 2-47377083-A-AT
MyVariant Identifiers: chr2:g.47604222_47604223insT (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47377089dup , CM000664.2:g.47377089dup GRCh38
NC_000002.11:g.47604228dup , CM000664.1:g.47604228dup GRCh37
NC_000002.10:g.47457732dup NCBI36
NG_012352.2:g.36927dup , LRG_215:g.36927dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000263735.9:c.555+12dup MANE Select ENSP00000263735.4:n.555+12dup
ENST00000263735.8:c.555+12dup ENSP00000263735.4:n.555+12dup
ENST00000405271.5:c.639+12dup ENSP00000385476.1:n.639+12dup
ENST00000456133.5:c.639+12dup ENSP00000410675.1:n.639+12dup
ENST00000490733.1:n.404+12dup
NM_002354.2:c.555+12dup , LRG_215t1:c.555+12dup NP_002345.2:n.555+12dup
NM_002354.3:c.555+12dup MANE Select NP_002345.2:n.555+12dup
Search 100 bp 5'
Search 100 bp 3'