Canonical Allele Identifier: CA2395633641

Gene: PRODH DGCR6

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18913399_18913414delinsAGCACCGTACCCCATC , CM000684.2:g.18913399_18913414delinsAGCACCGTACCCCATC	GRCh38
NC_000022.10:g.18900912_18900927delinsAGCACCGTACCCCATC , CM000684.1:g.18900912_18900927delinsAGCACCGTACCCCATC	GRCh37
NC_000022.9:g.17280912_17280927delinsAGCACCGTACCCCATC	NCBI36
NG_008226.2:g.28140_28155delinsGATGGGGTACGGTGCT
NG_009052.1:g.12177_12192delinsAGCACCGTACCCCATC
NG_008226.3:g.28140_28155delinsGATGGGGTACGGTGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357068.11:c.1615+24_1616-37delinsGATGGGGTACGGTGCT (PRODH) MANE Select	ENSP00000349577.6:n.1615+24_1616-37delinsGATGGGGTACGGTGCT
ENST00000638240.1:c.513+2371_513+2386delinsAGCACCGTACCCCATC	ENSP00000492446.1:n.513+2371_513+2386delinsAGCACCGTACCCCATC
ENST00000313755.9:n.2380+24_2381-37delinsGATGGGGTACGGTGCT (PRODH)
ENST00000334029.6:c.1291+24_1292-37delinsGATGGGGTACGGTGCT (PRODH)	ENSP00000334726.2:n.1291+24_1292-37delinsGATGGGGTACGGTGCT
ENST00000357068.10:c.1615+24_1616-37delinsGATGGGGTACGGTGCT (PRODH)	ENSP00000349577.6:n.1615+24_1616-37delinsGATGGGGTACGGTGCT
ENST00000420436.5:c.1291+24_1292-37delinsGATGGGGTACGGTGCT (PRODH)	ENSP00000410805.1:n.1291+24_1292-37delinsGATGGGGTACGGTGCT
ENST00000429300.5:n.1986+24_1987-37delinsGATGGGGTACGGTGCT (PRODH)
ENST00000482858.5:n.4095+24_4096-37delinsGATGGGGTACGGTGCT (PRODH)
ENST00000483718.5:c.*2041_*2056delinsAGCACCGTACCCCATC (DGCR6)	ENSP00000467483.1:n.*2041_*2056delinsAGCACCGTACCCCATC
ENST00000491604.5:n.2524+24_2525-37delinsGATGGGGTACGGTGCT (PRODH)
ENST00000610940.4:c.1615+24_1616-37delinsGATGGGGTACGGTGCT (PRODH)	ENSP00000480347.1:n.1615+24_1616-37delinsGATGGGGTACGGTGCT
NM_001195226.1:c.1291+24_1292-37delinsGATGGGGTACGGTGCT (PRODH)	NP_001182155.1:n.1291+24_1292-37delinsGATGGGGTACGGTGCT
NM_016335.4:c.1615+24_1616-37delinsGATGGGGTACGGTGCT (PRODH)	NP_057419.4:n.1615+24_1616-37delinsGATGGGGTACGGTGCT
XM_011530278.1:c.1042+24_1043-37delinsGATGGGGTACGGTGCT (PRODH)	XP_011528580.1:n.1042+24_1043-37delinsGATGGGGTACGGTGCT
XM_011530279.1:c.835+24_836-37delinsGATGGGGTACGGTGCT (PRODH)	XP_011528581.1:n.835+24_836-37delinsGATGGGGTACGGTGCT
XR_937876.1:n.1682+24_1683-37delinsGATGGGGTACGGTGCT (PRODH)
NM_005675.5:c.*1710_*1725delinsAGCACCGTACCCCATC (DGCR6)	NP_005666.2:n.*1710_*1725delinsAGCACCGTACCCCATC
NM_001195226.2:c.1291+24_1292-37delinsGATGGGGTACGGTGCT (PRODH)	NP_001182155.2:n.1291+24_1292-37delinsGATGGGGTACGGTGCT
NM_016335.5:c.1615+24_1616-37delinsGATGGGGTACGGTGCT (PRODH)	NP_057419.5:n.1615+24_1616-37delinsGATGGGGTACGGTGCT
NM_016335.6:c.1615+24_1616-37delinsGATGGGGTACGGTGCT (PRODH) MANE Select	NP_057419.5:n.1615+24_1616-37delinsGATGGGGTACGGTGCT