Canonical Allele Identifier: CA2693632445

Gene: EBP

Linked Data

• gnomAD v4: X-48527469-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48527473del , CM000685.2:g.48527473del	GRCh38
NC_000023.10:g.48385861del , CM000685.1:g.48385861del	GRCh37
NC_000023.9:g.48270805del	NCBI36
NG_007452.1:g.10698del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000495186.6:c.469+188del MANE Select	ENSP00000417052.1:n.469+188del
ENST00000651615.1:c.469+188del	ENSP00000498524.1:n.469+188del
ENST00000276096.10:n.427+188del
ENST00000446158.5:c.469+188del	ENSP00000390031.1:n.469+188del
ENST00000466461.1:n.496del
ENST00000495186.5:c.469+188del	ENSP00000417052.1:n.469+188del
ENST00000498425.1:n.590+188del
NM_006579.2:c.469+188del	NP_006570.1:n.469+188del
NM_006579.3:c.469+188del MANE Select	NP_006570.1:n.469+188del