Canonical Allele Identifier: CA2693632359

Gene: EBP

Linked Data

• gnomAD v4: X-48527288-A-ATGGGGATGTGCTCTACTTCCTGAC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48527288_48527289insTGGGGATGTGCTCTACTTCCTGAC , CM000685.2:g.48527288_48527289insTGGGGATGTGCTCTACTTCCTGAC	GRCh38
NC_000023.10:g.48385676_48385677insTGGGGATGTGCTCTACTTCCTGAC , CM000685.1:g.48385676_48385677insTGGGGATGTGCTCTACTTCCTGAC	GRCh37
NC_000023.9:g.48270620_48270621insTGGGGATGTGCTCTACTTCCTGAC	NCBI36
NG_007452.1:g.10513_10514insTGGGGATGTGCTCTACTTCCTGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000495186.6:c.469+3_469+4insTGGGGATGTGCTCTACTTCCTGAC MANE Select	ENSP00000417052.1:n.469+3_469+4insTGGGGATGTGCTCTACTTCCTGAC
ENST00000651615.1:c.469+3_469+4insTGGGGATGTGCTCTACTTCCTGAC	ENSP00000498524.1:n.469+3_469+4insTGGGGATGTGCTCTACTTCCTGAC
ENST00000276096.10:n.427+3_427+4insTGGGGATGTGCTCTACTTCCTGAC
ENST00000446158.5:c.469+3_469+4insTGGGGATGTGCTCTACTTCCTGAC	ENSP00000390031.1:n.469+3_469+4insTGGGGATGTGCTCTACTTCCTGAC
ENST00000466461.1:n.311_312insTGGGGATGTGCTCTACTTCCTGAC
ENST00000495186.5:c.469+3_469+4insTGGGGATGTGCTCTACTTCCTGAC	ENSP00000417052.1:n.469+3_469+4insTGGGGATGTGCTCTACTTCCTGAC
ENST00000498425.1:n.590+3_590+4insTGGGGATGTGCTCTACTTCCTGAC
NM_006579.2:c.469+3_469+4insTGGGGATGTGCTCTACTTCCTGAC	NP_006570.1:n.469+3_469+4insTGGGGATGTGCTCTACTTCCTGAC
NM_006579.3:c.469+3_469+4insTGGGGATGTGCTCTACTTCCTGAC MANE Select	NP_006570.1:n.469+3_469+4insTGGGGATGTGCTCTACTTCCTGAC