Canonical Allele Identifier: CA641901522

Gene: EBP

Linked Data

• dbSNP Id: rs1193600623
• gnomAD v2: X-48382153-CAA-C
• gnomAD v3: X-48523765-CAA-C
• gnomAD v4: X-48523765-CAA-C
• MyVariant Identifiers: chrX:g.48382154_48382155del (hg19) ; chrX:g.48523766_48523767del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48523767_48523768del , CM000685.2:g.48523767_48523768del	GRCh38
NC_000023.10:g.48382155_48382156del , CM000685.1:g.48382155_48382156del	GRCh37
NC_000023.9:g.48267099_48267100del	NCBI36
NG_007452.1:g.6992_6993del

Transcript Alleles

HGVS	Amino-acid change
ENST00000495186.6:c.-5_-4del MANE Select	ENSP00000417052.1:n.-5_-4del
ENST00000651615.1:c.-5_-4del	ENSP00000498524.1:n.-5_-4del
ENST00000276096.10:n.110-156_110-155del
ENST00000414061.1:c.-5_-4del	ENSP00000405832.1:n.-5_-4del
ENST00000446158.5:c.-5_-4del	ENSP00000390031.1:n.-5_-4del
ENST00000495186.5:c.-5_-4del	ENSP00000417052.1:n.-5_-4del
ENST00000498425.1:n.117_118del
NM_006579.2:c.-5_-4del	NP_006570.1:n.-5_-4del
NM_006579.3:c.-5_-4del MANE Select	NP_006570.1:n.-5_-4del