Canonical Allele Identifier: CA2693632358

Gene: EBP

Linked Data

• gnomAD v4: X-48527286-G-GCCAGATC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48527286_48527287insCCAGATC , CM000685.2:g.48527286_48527287insCCAGATC	GRCh38
NC_000023.10:g.48385674_48385675insCCAGATC , CM000685.1:g.48385674_48385675insCCAGATC	GRCh37
NC_000023.9:g.48270618_48270619insCCAGATC	NCBI36
NG_007452.1:g.10511_10512insCCAGATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000495186.6:c.469+1_469+2insCCAGATC MANE Select	ENSP00000417052.1:n.469+1_469+2insCCAGATC
ENST00000651615.1:c.469+1_469+2insCCAGATC	ENSP00000498524.1:n.469+1_469+2insCCAGATC
ENST00000276096.10:n.427+1_427+2insCCAGATC
ENST00000446158.5:c.469+1_469+2insCCAGATC	ENSP00000390031.1:n.469+1_469+2insCCAGATC
ENST00000466461.1:n.309_310insCCAGATC
ENST00000495186.5:c.469+1_469+2insCCAGATC	ENSP00000417052.1:n.469+1_469+2insCCAGATC
ENST00000498425.1:n.590+1_590+2insCCAGATC
NM_006579.2:c.469+1_469+2insCCAGATC	NP_006570.1:n.469+1_469+2insCCAGATC
NM_006579.3:c.469+1_469+2insCCAGATC MANE Select	NP_006570.1:n.469+1_469+2insCCAGATC