Canonical Allele Identifier: CA2573054865

Gene: RBM12 CPNE1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35653730_35653731delinsAGCC , CM000682.2:g.35653730_35653731delinsAGCC	GRCh38
NC_000020.10:g.34241652_34241653delinsAGCC , CM000682.1:g.34241652_34241653delinsAGCC	GRCh37
NC_000020.9:g.33705066_33705067delinsAGCC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374114.8:c.1592_1593delinsGGCT (RBM12) MANE Select	ENSP00000363228.3:p.Met531ArgfsTer4
ENST00000397443.7:c.-1+11029_-1+11030delinsGGCT (CPNE1) MANE Select	ENSP00000380585.1:n.-1+11029_-1+11030delinsGGCT
ENST00000352393.8:c.-1+1471_-1+1472delinsGGCT (CPNE1)	ENSP00000336945.4:n.-1+1471_-1+1472delinsGGCT
ENST00000359646.1:c.1592_1593delinsGGCT (RBM12)	ENSP00000352668.1:p.Met531ArgfsTer4
ENST00000374104.7:c.1592_1593delinsGGCT (RBM12)	ENSP00000363217.3:p.Met531ArgfsTer4
ENST00000374114.7:c.1592_1593delinsGGCT (RBM12)	ENSP00000363228.3:p.Met531ArgfsTer4
ENST00000397442.5:c.-1+11071_-1+11072delinsGGCT (CPNE1)	ENSP00000380584.1:n.-1+11071_-1+11072delinsGGCT
ENST00000397443.6:c.-1+11029_-1+11030delinsGGCT (CPNE1)	ENSP00000380585.1:n.-1+11029_-1+11030delinsGGCT
ENST00000401607.6:c.-1+11071_-1+11072delinsGGCT (CPNE1)	ENSP00000386067.2:n.-1+11071_-1+11072delinsGGCT
ENST00000412056.5:c.-1+11071_-1+11072delinsGGCT (CPNE1)	ENSP00000416962.1:n.-1+11071_-1+11072delinsGGCT
ENST00000414664.5:c.-1+11029_-1+11030delinsGGCT (CPNE1)	ENSP00000404355.1:n.-1+11029_-1+11030delinsGGCT
ENST00000414711.5:c.-1+1471_-1+1472delinsGGCT (CPNE1)	ENSP00000409955.1:n.-1+1471_-1+1472delinsGGCT
ENST00000416778.5:c.-1+11029_-1+11030delinsGGCT (CPNE1)	ENSP00000389662.1:n.-1+11029_-1+11030delinsGGCT
ENST00000420363.5:c.-1+5199_-1+5200delinsGGCT (CPNE1)	ENSP00000401915.1:n.-1+5199_-1+5200delinsGGCT
ENST00000430570.5:c.-1+11029_-1+11030delinsGGCT (CPNE1)	ENSP00000390626.1:n.-1+11029_-1+11030delinsGGCT
ENST00000434795.5:c.-1+5199_-1+5200delinsGGCT (CPNE1)	ENSP00000409794.1:n.-1+5199_-1+5200delinsGGCT
ENST00000435747.2:c.-1+10628_-1+10629delinsGGCT (CPNE1)	ENSP00000412806.1:n.-1+10628_-1+10629delinsGGCT
ENST00000437100.5:c.-1+1471_-1+1472delinsGGCT (CPNE1)	ENSP00000391483.1:n.-1+1471_-1+1472delinsGGCT
ENST00000437340.5:c.-1+11071_-1+11072delinsGGCT (CPNE1)	ENSP00000415597.1:n.-1+11071_-1+11072delinsGGCT
ENST00000439669.5:c.-1+11029_-1+11030delinsGGCT (CPNE1)	ENSP00000409305.1:n.-1+11029_-1+11030delinsGGCT
ENST00000439806.6:c.-1+11148_-1+11149delinsGGCT (CPNE1)	ENSP00000387434.1:n.-1+11148_-1+11149delinsGGCT
ENST00000440240.5:c.-1+1471_-1+1472delinsGGCT (CPNE1)	ENSP00000397638.1:n.-1+1471_-1+1472delinsGGCT
ENST00000441563.5:c.385+1471_385+1472delinsGGCT
ENST00000454607.5:c.453+1471_453+1472delinsGGCT
ENST00000458038.5:c.-1+5199_-1+5200delinsGGCT (CPNE1)	ENSP00000390141.1:n.-1+5199_-1+5200delinsGGCT
ENST00000483359.5:n.102+11029_102+11030delinsGGCT (CPNE1)
ENST00000541176.2:c.517+1471_517+1472delinsGGCT
NM_001198838.1:c.1592_1593delinsGGCT (RBM12)	NP_001185767.1:p.Met531ArgfsTer4
NM_001198840.1:c.1592_1593delinsGGCT (RBM12)	NP_001185769.1:p.Met531ArgfsTer4
NM_001198863.1:c.-1+11071_-1+11072delinsGGCT (CPNE1)	NP_001185792.1:n.-1+11071_-1+11072delinsGGCT
NM_003915.5:c.-189_-188delinsGGCT (CPNE1)	NP_003906.2:n.-189_-188delinsGGCT
NM_006047.5:c.1592_1593delinsGGCT (RBM12)	NP_006038.2:p.Met531ArgfsTer4
NM_152838.3:c.1592_1593delinsGGCT (RBM12)	NP_690051.1:p.Met531ArgfsTer4
NM_152925.2:c.-1+11029_-1+11030delinsGGCT (CPNE1)	NP_690902.1:n.-1+11029_-1+11030delinsGGCT
NM_152926.2:c.-1+11071_-1+11072delinsGGCT (CPNE1)	NP_690903.1:n.-1+11071_-1+11072delinsGGCT
NM_152927.2:c.-1+5199_-1+5200delinsGGCT (CPNE1)	NP_690904.1:n.-1+5199_-1+5200delinsGGCT
NM_152928.2:c.-1+5199_-1+5200delinsGGCT (CPNE1)	NP_690905.1:n.-1+5199_-1+5200delinsGGCT
NR_037188.1:n.374+1471_374+1472delinsGGCT (CPNE1)
NM_006047.6:c.1592_1593delinsGGCT (RBM12) MANE Select	NP_006038.2:p.Met531ArgfsTer4
NM_001198838.2:c.1592_1593delinsGGCT (RBM12)	NP_001185767.1:p.Met531ArgfsTer4
NM_001198840.2:c.1592_1593delinsGGCT (RBM12)	NP_001185769.1:p.Met531ArgfsTer4
NM_001198863.2:c.-1+11071_-1+11072delinsGGCT (CPNE1)	NP_001185792.1:n.-1+11071_-1+11072delinsGGCT
NM_152838.4:c.1592_1593delinsGGCT (RBM12)	NP_690051.1:p.Met531ArgfsTer4
NM_152925.3:c.-1+11029_-1+11030delinsGGCT (CPNE1) MANE Select	NP_690902.1:n.-1+11029_-1+11030delinsGGCT
NM_152926.3:c.-1+11071_-1+11072delinsGGCT (CPNE1)	NP_690903.1:n.-1+11071_-1+11072delinsGGCT
NM_152927.3:c.-1+5199_-1+5200delinsGGCT (CPNE1)	NP_690904.1:n.-1+5199_-1+5200delinsGGCT
NM_152928.3:c.-1+5199_-1+5200delinsGGCT (CPNE1)	NP_690905.1:n.-1+5199_-1+5200delinsGGCT
NR_037188.2:n.337+1471_337+1472delinsGGCT (CPNE1)
NM_003915.6:c.-189_-188delinsGGCT (CPNE1)	NP_003906.2:n.-189_-188delinsGGCT