Canonical Allele Identifier: CA2693632404

Gene: EBP

Linked Data

• gnomAD v4: X-48527420-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48527421_48527422del , CM000685.2:g.48527421_48527422del	GRCh38
NC_000023.10:g.48385809_48385810del , CM000685.1:g.48385809_48385810del	GRCh37
NC_000023.9:g.48270753_48270754del	NCBI36
NG_007452.1:g.10646_10647del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000495186.6:c.469+136_469+137del MANE Select	ENSP00000417052.1:n.469+136_469+137del
ENST00000651615.1:c.469+136_469+137del	ENSP00000498524.1:n.469+136_469+137del
ENST00000276096.10:n.427+136_427+137del
ENST00000446158.5:c.469+136_469+137del	ENSP00000390031.1:n.469+136_469+137del
ENST00000466461.1:n.444_445del
ENST00000495186.5:c.469+136_469+137del	ENSP00000417052.1:n.469+136_469+137del
ENST00000498425.1:n.590+136_590+137del
NM_006579.2:c.469+136_469+137del	NP_006570.1:n.469+136_469+137del
NM_006579.3:c.469+136_469+137del MANE Select	NP_006570.1:n.469+136_469+137del