Canonical Allele Identifier: CA271477

Gene: EBP

Linked Data

• ClinVar Variation Id: 158548
• ClinVar RCV Id: RCV000145940
• dbSNP Id: rs587783615
• MyVariant Identifiers: chrX:g.48385668_48385669del (hg19) ; chrX:g.48527280_48527281del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48527280_48527281del , CM000685.2:g.48527280_48527281del	GRCh38
NC_000023.10:g.48385668_48385669del , CM000685.1:g.48385668_48385669del	GRCh37
NC_000023.9:g.48270612_48270613del	NCBI36
NG_007452.1:g.10505_10506del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000495186.6:c.464_465del MANE Select	ENSP00000417052.1:p.Ser155CysfsTer?
ENST00000651615.1:c.464_465del	ENSP00000498524.1:p.Ser155CysfsTer14
ENST00000276096.10:n.422_423del
ENST00000446158.5:c.464_465del	ENSP00000390031.1:p.Ser155CysfsTer?
ENST00000466461.1:n.303_304del
ENST00000495186.5:c.464_465del	ENSP00000417052.1:p.Ser155CysfsTer?
ENST00000498425.1:n.585_586del
NM_006579.2:c.464_465del	NP_006570.1:p.Ser155CysfsTer?
NM_006579.3:c.464_465del MANE Select	NP_006570.1:p.Ser155CysfsTer?