Canonical Allele Identifier: CA314321094
Community Standard Title: NM_002951.5(RPN2):c.1494+235_1494+236insACCTT
Gene: RPN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.37228979_37228980insACCTT , CM000682.2:g.37228979_37228980insACCTT GRCh38
NC_000020.10:g.35857382_35857383insACCTT , CM000682.1:g.35857382_35857383insACCTT GRCh37
NC_000020.9:g.35290796_35290797insACCTT NCBI36
NG_042268.1:g.54927_54928insACCTT

Transcript Alleles

HGVS Amino-acid Change
NM_002951.5:c.1494+235_1494+236insACCTT MANE Select NP_002942.2:n.1494+235_1494+236insACCTT
ENST00000237530.11:c.1494+235_1494+236insACCTT MANE Select ENSP00000237530.6:n.1494+235_1494+236insACCTT
NM_001135771.1:c.1398+235_1398+236insACCTT NP_001129243.1:n.1398+235_1398+236insACCTT
NM_001135771.2:c.1398+235_1398+236insACCTT NP_001129243.1:n.1398+235_1398+236insACCTT
NM_001135771.3:c.1398+235_1398+236insACCTT NP_001129243.1:n.1398+235_1398+236insACCTT
NM_001324299.1:c.1494+235_1494+236insACCTT NP_001311228.1:n.1494+235_1494+236insACCTT
NM_001324299.2:c.1494+235_1494+236insACCTT NP_001311228.1:n.1494+235_1494+236insACCTT
NM_001324301.1:c.1542+235_1542+236insACCTT NP_001311230.1:n.1542+235_1542+236insACCTT
NM_001324301.2:c.1542+235_1542+236insACCTT NP_001311230.1:n.1542+235_1542+236insACCTT
NM_001324302.1:c.1494+235_1494+236insACCTT NP_001311231.1:n.1494+235_1494+236insACCTT
NM_001324302.2:c.1494+235_1494+236insACCTT NP_001311231.1:n.1494+235_1494+236insACCTT
NM_001324303.1:c.1494+235_1494+236insACCTT NP_001311232.1:n.1494+235_1494+236insACCTT
NM_001324303.2:c.1494+235_1494+236insACCTT NP_001311232.1:n.1494+235_1494+236insACCTT
NM_001324304.1:c.1494+235_1494+236insACCTT NP_001311233.1:n.1494+235_1494+236insACCTT
NM_001324304.2:c.1494+235_1494+236insACCTT NP_001311233.1:n.1494+235_1494+236insACCTT
NM_001324305.1:c.1542+235_1542+236insACCTT NP_001311234.1:n.1542+235_1542+236insACCTT
NM_001324305.2:c.1542+235_1542+236insACCTT NP_001311234.1:n.1542+235_1542+236insACCTT
NM_001324306.1:c.1023+235_1023+236insACCTT NP_001311235.1:n.1023+235_1023+236insACCTT
NM_001324306.2:c.1023+235_1023+236insACCTT NP_001311235.1:n.1023+235_1023+236insACCTT
NM_002951.3:c.1494+235_1494+236insACCTT NP_002942.2:n.1494+235_1494+236insACCTT
NM_002951.4:c.1494+235_1494+236insACCTT NP_002942.2:n.1494+235_1494+236insACCTT
ENST00000237530.10:c.1494+235_1494+236insACCTT ENSP00000237530.6:n.1494+235_1494+236insACCTT
ENST00000373622.9:c.1398+235_1398+236insACCTT ENSP00000362724.5:n.1398+235_1398+236insACCTT
ENST00000437329.5:c.111+235_111+236insACCTT ENSP00000409580.1:n.111+235_111+236insACCTT
ENST00000456400.1:c.67+235_67+236insACCTT
ENST00000705448.1:c.1494+235_1494+236insACCTT ENSP00000516126.1:n.1494+235_1494+236insACCTT
XM_005260491.1:c.1494+235_1494+236insACCTT XP_005260548.1:n.1494+235_1494+236insACCTT
XM_006723849.1:c.1542+235_1542+236insACCTT XP_006723912.1:n.1542+235_1542+236insACCTT
XM_006723850.1:c.1542+235_1542+236insACCTT XP_006723913.1:n.1542+235_1542+236insACCTT
XM_006723851.1:c.1542+235_1542+236insACCTT XP_006723914.1:n.1542+235_1542+236insACCTT
XM_006723851.3:c.1542+235_1542+236insACCTT XP_006723914.1:n.1542+235_1542+236insACCTT
XM_006723852.1:c.1542+235_1542+236insACCTT XP_006723915.1:n.1542+235_1542+236insACCTT
XM_006723852.3:c.1542+235_1542+236insACCTT XP_006723915.1:n.1542+235_1542+236insACCTT