Canonical Allele Identifier: CA2428298309
Gene: EBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48527238_48527243delinsTCCGCC , CM000685.2:g.48527238_48527243delinsTCCGCC GRCh38
NC_000023.10:g.48385626_48385631delinsTCCGCC , CM000685.1:g.48385626_48385631delinsTCCGCC GRCh37
NC_000023.9:g.48270570_48270575delinsTCCGCC NCBI36
NG_007452.1:g.10463_10468delinsTCCGCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000495186.6:c.422_427delinsTCCGCC MANE Select ENSP00000417052.1:p.Leu141=
ENST00000651615.1:c.422_427delinsTCCGCC ENSP00000498524.1:p.Leu141=
ENST00000276096.10:n.380_385delinsTCCGCC
ENST00000414061.1:c.422_427delinsTCCGCC ENSP00000405832.1:p.Leu141=
ENST00000446158.5:c.422_427delinsTCCGCC ENSP00000390031.1:p.Leu141=
ENST00000466461.1:n.261_266delinsTCCGCC
ENST00000495186.5:c.422_427delinsTCCGCC ENSP00000417052.1:p.Leu141=
ENST00000498425.1:n.543_548delinsTCCGCC
NM_006579.2:c.422_427delinsTCCGCC NP_006570.1:p.Leu141=
NM_006579.3:c.422_427delinsTCCGCC MANE Select NP_006570.1:p.Leu141=