Canonical Allele Identifier: CA2658944438

Gene: EPCAM

Linked Data

• gnomAD v4: 2-47377229-G-GTT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47377237_47377238dup , CM000664.2:g.47377237_47377238dup	GRCh38
NC_000002.11:g.47604376_47604377dup , CM000664.1:g.47604376_47604377dup	GRCh37
NC_000002.10:g.47457880_47457881dup	NCBI36
NG_012352.2:g.37075_37076dup , LRG_215:g.37075_37076dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263735.9:c.555+160_555+161dup MANE Select	ENSP00000263735.4:n.555+160_555+161dup
ENST00000263735.8:c.555+160_555+161dup	ENSP00000263735.4:n.555+160_555+161dup
ENST00000405271.5:c.639+160_639+161dup	ENSP00000385476.1:n.639+160_639+161dup
ENST00000456133.5:c.639+160_639+161dup	ENSP00000410675.1:n.639+160_639+161dup
ENST00000490733.1:n.404+160_404+161dup
NM_002354.2:c.555+160_555+161dup , LRG_215t1:c.555+160_555+161dup	NP_002345.2:n.555+160_555+161dup
NM_002354.3:c.555+160_555+161dup MANE Select	NP_002345.2:n.555+160_555+161dup