Canonical Allele Identifier: CA641500233

Gene: EBP

Linked Data

• dbSNP Id: rs1176383321
• gnomAD v2: X-48385828-A-AT
• gnomAD v3: X-48527440-A-AT
• gnomAD v4: X-48527440-A-AT
• MyVariant Identifiers: chrX:g.48385828_48385829insT (hg19) ; chrX:g.48527440_48527441insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48527441dup , CM000685.2:g.48527441dup	GRCh38
NC_000023.10:g.48385829dup , CM000685.1:g.48385829dup	GRCh37
NC_000023.9:g.48270773dup	NCBI36
NG_007452.1:g.10666dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000495186.6:c.469+156dup MANE Select	ENSP00000417052.1:n.469+156dup
ENST00000651615.1:c.469+156dup	ENSP00000498524.1:n.469+156dup
ENST00000276096.10:n.427+156dup
ENST00000446158.5:c.469+156dup	ENSP00000390031.1:n.469+156dup
ENST00000466461.1:n.464dup
ENST00000495186.5:c.469+156dup	ENSP00000417052.1:n.469+156dup
ENST00000498425.1:n.590+156dup
NM_006579.2:c.469+156dup	NP_006570.1:n.469+156dup
NM_006579.3:c.469+156dup MANE Select	NP_006570.1:n.469+156dup