Canonical Allele Identifier: CA2695234267

Gene: EBP

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48527028_48527031del , CM000685.2:g.48527028_48527031del	GRCh38
NC_000023.10:g.48385416_48385419del , CM000685.1:g.48385416_48385419del	GRCh37
NC_000023.9:g.48270360_48270363del	NCBI36
NG_007452.1:g.10253_10256del

Transcript Alleles

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