Canonical Allele Identifier: CA1132952831

Gene: EBP

Linked Data

• gnomAD v3: X-48523677-TCTGTAC-T
• gnomAD v4: X-48523677-TCTGTAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48523678_48523683del , CM000685.2:g.48523678_48523683del	GRCh38
NC_000023.10:g.48382066_48382071del , CM000685.1:g.48382066_48382071del	GRCh37
NC_000023.9:g.48267010_48267015del	NCBI36
NG_007452.1:g.6903_6908del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000495186.6:c.-73-21_-73-16del MANE Select	ENSP00000417052.1:n.-73-21_-73-16del
ENST00000651615.1:c.-73-21_-73-16del	ENSP00000498524.1:n.-73-21_-73-16del
ENST00000276096.10:n.110-245_110-240del
ENST00000414061.1:c.-73-21_-73-16del	ENSP00000405832.1:n.-73-21_-73-16del
ENST00000446158.5:c.-73-21_-73-16del	ENSP00000390031.1:n.-73-21_-73-16del
ENST00000495186.5:c.-73-21_-73-16del	ENSP00000417052.1:n.-73-21_-73-16del
ENST00000498425.1:n.104-76_104-71del
NM_006579.2:c.-73-21_-73-16del	NP_006570.1:n.-73-21_-73-16del
NM_006579.3:c.-73-21_-73-16del MANE Select	NP_006570.1:n.-73-21_-73-16del