Canonical Allele Identifier: CA1806686045
Gene: RRM2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.102231868_102231880delinsCAAAAAAAAAAAA , CM000670.2:g.102231868_102231880delinsCAAAAAAAAAAAA GRCh38
NC_000008.10:g.103244096_103244108delinsCAAAAAAAAAAAA , CM000670.1:g.103244096_103244108delinsCAAAAAAAAAAAA GRCh37
NC_000008.9:g.103313272_103313284delinsCAAAAAAAAAAAA NCBI36
NG_016617.1:g.12239_12251delinsTTTTTTTTTTTTG , LRG_788:g.12239_12251delinsTTTTTTTTTTTTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000251810.8:c.204+269_204+281delinsTTTTTTTTTTTTG MANE Select ENSP00000251810.3:n.204+269_204+281delinsTTTTTTTTTTTTG
ENST00000251810.7:c.204+269_204+281delinsTTTTTTTTTTTTG ENSP00000251810.3:n.204+269_204+281delinsTTTTTTTTTTTTG
ENST00000395912.6:c.49-5846_49-5834delinsTTTTTTTTTTTTG ENSP00000379248.2:n.49-5846_49-5834delinsTTTTTTTTTTTTG
ENST00000517517.1:n.513+269_513+281delinsTTTTTTTTTTTTG
ENST00000519317.5:c.48+6947_48+6959delinsTTTTTTTTTTTTG ENSP00000430641.1:n.48+6947_48+6959delinsTTTTTTTTTTTTG
ENST00000519962.5:c.48+6947_48+6959delinsTTTTTTTTTTTTG ENSP00000429140.1:n.48+6947_48+6959delinsTTTTTTTTTTTTG
ENST00000522368.5:c.373+269_373+281delinsTTTTTTTTTTTTG
ENST00000522394.1:c.122+351_122+363delinsTTTTTTTTTTTTG ENSP00000429578.1:n.122+351_122+363delinsTTTTTTTTTTTTG
ENST00000523957.1:c.*127+269_*127+281delinsTTTTTTTTTTTTG ENSP00000427830.1:n.*127+269_*127+281delinsTTTTTTTTTTTTG
ENST00000621845.1:c.42+269_42+281delinsTTTTTTTTTTTTG ENSP00000484318.1:n.42+269_42+281delinsTTTTTTTTTTTTG
NM_001172477.1:c.420+269_420+281delinsTTTTTTTTTTTTG , LRG_788t1:c.420+269_420+281delinsTTTTTTTTTTTTG NP_001165948.1:n.420+269_420+281delinsTTTTTTTTTTTTG
NM_001172478.1:c.49-5846_49-5834delinsTTTTTTTTTTTTG NP_001165949.1:n.49-5846_49-5834delinsTTTTTTTTTTTTG
NM_015713.4:c.204+269_204+281delinsTTTTTTTTTTTTG , LRG_788t2:c.204+269_204+281delinsTTTTTTTTTTTTG NP_056528.2:n.204+269_204+281delinsTTTTTTTTTTTTG
NM_001172478.2:c.49-5846_49-5834delinsTTTTTTTTTTTTG NP_001165949.1:n.49-5846_49-5834delinsTTTTTTTTTTTTG
NM_015713.5:c.204+269_204+281delinsTTTTTTTTTTTTG MANE Select NP_056528.2:n.204+269_204+281delinsTTTTTTTTTTTTG