Canonical Allele Identifier: CA2658944427

Gene: EPCAM

Linked Data

• gnomAD v4: 2-47377219-T-TAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47377219_47377220insAAAA , CM000664.2:g.47377219_47377220insAAAA	GRCh38
NC_000002.11:g.47604358_47604359insAAAA , CM000664.1:g.47604358_47604359insAAAA	GRCh37
NC_000002.10:g.47457862_47457863insAAAA	NCBI36
NG_012352.2:g.37057_37058insAAAA , LRG_215:g.37057_37058insAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263735.9:c.555+142_555+143insAAAA MANE Select	ENSP00000263735.4:n.555+142_555+143insAAAA
ENST00000263735.8:c.555+142_555+143insAAAA	ENSP00000263735.4:n.555+142_555+143insAAAA
ENST00000405271.5:c.639+142_639+143insAAAA	ENSP00000385476.1:n.639+142_639+143insAAAA
ENST00000456133.5:c.639+142_639+143insAAAA	ENSP00000410675.1:n.639+142_639+143insAAAA
ENST00000490733.1:n.404+142_404+143insAAAA
NM_002354.2:c.555+142_555+143insAAAA , LRG_215t1:c.555+142_555+143insAAAA	NP_002345.2:n.555+142_555+143insAAAA
NM_002354.3:c.555+142_555+143insAAAA MANE Select	NP_002345.2:n.555+142_555+143insAAAA