Canonical Allele Identifier: CA2693632332

Gene: EBP

Linked Data

• gnomAD v4: X-48527025-T-TGTAA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48527028_48527031dup , CM000685.2:g.48527028_48527031dup	GRCh38
NC_000023.10:g.48385416_48385419dup , CM000685.1:g.48385416_48385419dup	GRCh37
NC_000023.9:g.48270360_48270363dup	NCBI36
NG_007452.1:g.10253_10256dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000495186.6:c.338+3_338+6dup MANE Select	ENSP00000417052.1:n.338+3_338+6dup
ENST00000651615.1:c.338+3_338+6dup	ENSP00000498524.1:n.338+3_338+6dup
ENST00000276096.10:n.296+3_296+6dup
ENST00000414061.1:c.338+3_338+6dup	ENSP00000405832.1:n.338+3_338+6dup
ENST00000446158.5:c.338+3_338+6dup	ENSP00000390031.1:n.338+3_338+6dup
ENST00000466461.1:n.177+3_177+6dup
ENST00000495186.5:c.338+3_338+6dup	ENSP00000417052.1:n.338+3_338+6dup
ENST00000498425.1:n.459+3_459+6dup
NM_006579.2:c.338+3_338+6dup	NP_006570.1:n.338+3_338+6dup
NM_006579.3:c.338+3_338+6dup MANE Select	NP_006570.1:n.338+3_338+6dup