Canonical Allele Identifier: CA2693631790

Gene: EBP

Linked Data

• gnomAD v4: X-48523752-AGCCATCAGCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48523753_48523762del , CM000685.2:g.48523753_48523762del	GRCh38
NC_000023.10:g.48382141_48382150del , CM000685.1:g.48382141_48382150del	GRCh37
NC_000023.9:g.48267085_48267094del	NCBI36
NG_007452.1:g.6978_6987del

Transcript Alleles

HGVS	Amino-acid change
ENST00000495186.6:c.-19_-10del MANE Select	ENSP00000417052.1:n.-19_-10del
ENST00000651615.1:c.-19_-10del	ENSP00000498524.1:n.-19_-10del
ENST00000276096.10:n.110-170_110-161del
ENST00000414061.1:c.-19_-10del	ENSP00000405832.1:n.-19_-10del
ENST00000446158.5:c.-19_-10del	ENSP00000390031.1:n.-19_-10del
ENST00000495186.5:c.-19_-10del	ENSP00000417052.1:n.-19_-10del
ENST00000498425.1:n.104-1_112del
NM_006579.2:c.-19_-10del	NP_006570.1:n.-19_-10del
NM_006579.3:c.-19_-10del MANE Select	NP_006570.1:n.-19_-10del