Canonical Allele Identifier: CA769444417
Gene: EPCAM HGNC NCBI

Linked Data

dbSNP Id: rs1165057058
gnomAD v3: 2-47377275-TC-T
gnomAD v4: 2-47377275-TC-T
MyVariant Identifiers: chr2:g.47604415del (hg19) chr2:g.47377276del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47377279del , CM000664.2:g.47377279del GRCh38
NC_000002.11:g.47604418del , CM000664.1:g.47604418del GRCh37
NC_000002.10:g.47457922del NCBI36
NG_012352.2:g.37117del , LRG_215:g.37117del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263735.9:c.555+202del MANE Select ENSP00000263735.4:n.555+202del
ENST00000263735.8:c.555+202del ENSP00000263735.4:n.555+202del
ENST00000405271.5:c.639+202del ENSP00000385476.1:n.639+202del
ENST00000456133.5:c.639+202del ENSP00000410675.1:n.639+202del
ENST00000490733.1:n.404+202del
NM_002354.2:c.555+202del , LRG_215t1:c.555+202del NP_002345.2:n.555+202del
NM_002354.3:c.555+202del MANE Select NP_002345.2:n.555+202del
Search 100 bp 5'
Search 100 bp 3'