Canonical Allele Identifier: CA532337791

Gene: EPCAM

Linked Data

• gnomAD v2: 2-47604374-T-TTTTG
• gnomAD v3: 2-47377235-T-TTTTG
• gnomAD v4: 2-47377235-T-TTTTG
• MyVariant Identifiers: chr2:g.47604374_47604375insTTTG (hg19) ; chr2:g.47377235_47377236insTTTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47377247_47377250dup , CM000664.2:g.47377247_47377250dup	GRCh38
NC_000002.11:g.47604386_47604389dup , CM000664.1:g.47604386_47604389dup	GRCh37
NC_000002.10:g.47457890_47457893dup	NCBI36
NG_012352.2:g.37085_37088dup , LRG_215:g.37085_37088dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263735.9:c.555+170_555+173dup MANE Select	ENSP00000263735.4:n.555+170_555+173dup
ENST00000263735.8:c.555+170_555+173dup	ENSP00000263735.4:n.555+170_555+173dup
ENST00000405271.5:c.639+170_639+173dup	ENSP00000385476.1:n.639+170_639+173dup
ENST00000456133.5:c.639+170_639+173dup	ENSP00000410675.1:n.639+170_639+173dup
ENST00000490733.1:n.404+170_404+173dup
NM_002354.2:c.555+170_555+173dup , LRG_215t1:c.555+170_555+173dup	NP_002345.2:n.555+170_555+173dup
NM_002354.3:c.555+170_555+173dup MANE Select	NP_002345.2:n.555+170_555+173dup