Canonical Allele Identifier: CA1132939485
Gene: EBP HGNC NCBI

Linked Data

dbSNP Id: rs2061784828
gnomAD v3: X-48528208-TCTC-T
gnomAD v4: X-48528208-TCTC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48528211_48528213del , CM000685.2:g.48528211_48528213del GRCh38
NC_000023.10:g.48386599_48386601del , CM000685.1:g.48386599_48386601del GRCh37
NC_000023.9:g.48271543_48271545del NCBI36
NG_007452.1:g.11436_11438del

Transcript Alleles

HGVS Amino-acid change
ENST00000495186.6:c.470-23_470-21del MANE Select ENSP00000417052.1:n.470-23_470-21del
ENST00000651615.1:c.469+926_469+928del ENSP00000498524.1:n.469+926_469+928del
ENST00000276096.10:n.428-23_428-21del
ENST00000446158.5:c.470-23_470-21del ENSP00000390031.1:n.470-23_470-21del
ENST00000495186.5:c.470-23_470-21del ENSP00000417052.1:n.470-23_470-21del
ENST00000498425.1:n.591-23_591-21del
NM_006579.2:c.470-23_470-21del NP_006570.1:n.470-23_470-21del
NM_006579.3:c.470-23_470-21del MANE Select NP_006570.1:n.470-23_470-21del
Search 100 bp 5'
Search 100 bp 3'