Canonical Allele Identifier: CA248858
Community Standard Title: NM_015713.5(RRM2B):c.48+215dup
Gene: RRM2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.102238612dup , CM000670.2:g.102238612dup GRCh38
NC_000008.10:g.103250840dup , CM000670.1:g.103250840dup GRCh37
NC_000008.9:g.103320016dup NCBI36
NG_016617.1:g.5507dup , LRG_788:g.5507dup

Transcript Alleles

HGVS Amino-acid Change
NM_015713.5:c.48+215dup MANE Select NP_056528.2:n.48+215dup
ENST00000251810.8:c.48+215dup MANE Select ENSP00000251810.3:n.48+215dup
NM_001172477.1:c.211dup , LRG_788t1:c.211dup NP_001165948.1:p.Arg71ProfsTer28
NM_001172478.1:c.48+215dup NP_001165949.1:n.48+215dup
NM_001172478.2:c.48+215dup NP_001165949.1:n.48+215dup
NM_015713.4:c.48+215dup , LRG_788t2:c.48+215dup NP_056528.2:n.48+215dup
ENST00000251810.7:c.48+215dup ENSP00000251810.3:n.48+215dup
ENST00000395912.6:c.48+215dup ENSP00000379248.2:n.48+215dup
ENST00000517517.1:n.186dup
ENST00000519317.5:c.48+215dup ENSP00000430641.1:n.48+215dup
ENST00000519962.5:c.48+215dup ENSP00000429140.1:n.48+215dup
ENST00000522368.5:c.164dup
ENST00000522394.1:c.48+215dup ENSP00000429578.1:n.48+215dup
ENST00000523957.1:c.48+215dup ENSP00000427830.1:n.48+215dup
ENST00000621845.1:c.-168dup ENSP00000484318.1:n.-168dup