Canonical Allele Identifier: CA2395633514

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.18913136_18913163delinsGGCGGGGGGTGCTGGAGGCTAAGGGTGT , CM000684.2:g.18913136_18913163delinsGGCGGGGGGTGCTGGAGGCTAAGGGTGT GRCh38
NC_000022.10:g.18900649_18900676delinsGGCGGGGGGTGCTGGAGGCTAAGGGTGT , CM000684.1:g.18900649_18900676delinsGGCGGGGGGTGCTGGAGGCTAAGGGTGT GRCh37
NC_000022.9:g.17280649_17280676delinsGGCGGGGGGTGCTGGAGGCTAAGGGTGT NCBI36
NG_008226.2:g.28391_28418delinsACACCCTTAGCCTCCAGCACCCCCCGCC
NG_009052.1:g.11914_11941delinsGGCGGGGGGTGCTGGAGGCTAAGGGTGT
NG_008226.3:g.28391_28418delinsACACCCTTAGCCTCCAGCACCCCCCGCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000357068.11:c.*12_*39delinsACACCCTTAGCCTCCAGCACCCCCCGCC (PRODH) MANE Select ENSP00000349577.6:n.*12_*39delinsACACCCTTAGCCTCCAGCACCCCCCGCC...
ENST00000638240.1:c.513+2108_513+2135delinsGGCGGGGGGTGCTGGAGGCTAAGGGTGT ENSP00000492446.1:n.513+2108_513+2135delinsGGCGGGGGGTGCTGGAGG...
ENST00000313755.9:n.2580_2607delinsACACCCTTAGCCTCCAGCACCCCCCGCC (PRODH)
ENST00000334029.6:c.*12_*39delinsACACCCTTAGCCTCCAGCACCCCCCGCC (PRODH) ENSP00000334726.2:n.*12_*39delinsACACCCTTAGCCTCCAGCACCCCCCGCC...
ENST00000357068.10:c.*12_*39delinsACACCCTTAGCCTCCAGCACCCCCCGCC (PRODH) ENSP00000349577.6:n.*12_*39delinsACACCCTTAGCCTCCAGCACCCCCCGCC...
ENST00000420436.5:c.*12_*39delinsACACCCTTAGCCTCCAGCACCCCCCGCC (PRODH) ENSP00000410805.1:n.*12_*39delinsACACCCTTAGCCTCCAGCACCCCCCGCC...
ENST00000429300.5:n.2186_2213delinsACACCCTTAGCCTCCAGCACCCCCCGCC (PRODH)
ENST00000482858.5:n.4295_4322delinsACACCCTTAGCCTCCAGCACCCCCCGCC (PRODH)
ENST00000483718.5:c.*1778_*1805delinsGGCGGGGGGTGCTGGAGGCTAAGGGTGT (DGCR6) ENSP00000467483.1:n.*1778_*1805delinsGGCGGGGGGTGCTGGAGGCTAAGG...
ENST00000491604.5:n.2724_2751delinsACACCCTTAGCCTCCAGCACCCCCCGCC (PRODH)
ENST00000610940.4:c.*12_*39delinsACACCCTTAGCCTCCAGCACCCCCCGCC (PRODH) ENSP00000480347.1:n.*12_*39delinsACACCCTTAGCCTCCAGCACCCCCCGCC...
NM_001195226.1:c.*12_*39delinsACACCCTTAGCCTCCAGCACCCCCCGCC (PRODH) NP_001182155.1:n.*12_*39delinsACACCCTTAGCCTCCAGCACCCCCCGCC
NM_016335.4:c.*12_*39delinsACACCCTTAGCCTCCAGCACCCCCCGCC (PRODH) NP_057419.4:n.*12_*39delinsACACCCTTAGCCTCCAGCACCCCCCGCC
XM_011530278.1:c.*12_*39delinsACACCCTTAGCCTCCAGCACCCCCCGCC (PRODH) XP_011528580.1:n.*12_*39delinsACACCCTTAGCCTCCAGCACCCCCCGCC
XM_011530279.1:c.*12_*39delinsACACCCTTAGCCTCCAGCACCCCCCGCC (PRODH) XP_011528581.1:n.*12_*39delinsACACCCTTAGCCTCCAGCACCCCCCGCC
XR_937876.1:n.1882_1909delinsACACCCTTAGCCTCCAGCACCCCCCGCC (PRODH)
NM_005675.5:c.*1447_*1474delinsGGCGGGGGGTGCTGGAGGCTAAGGGTGT (DGCR6) NP_005666.2:n.*1447_*1474delinsGGCGGGGGGTGCTGGAGGCTAAGGGTGT
NM_001195226.2:c.*12_*39delinsACACCCTTAGCCTCCAGCACCCCCCGCC (PRODH) NP_001182155.2:n.*12_*39delinsACACCCTTAGCCTCCAGCACCCCCCGCC
NM_016335.5:c.*12_*39delinsACACCCTTAGCCTCCAGCACCCCCCGCC (PRODH) NP_057419.5:n.*12_*39delinsACACCCTTAGCCTCCAGCACCCCCCGCC
NM_016335.6:c.*12_*39delinsACACCCTTAGCCTCCAGCACCCCCCGCC (PRODH) MANE Select NP_057419.5:n.*12_*39delinsACACCCTTAGCCTCCAGCACCCCCCGCC