Canonical Allele Identifier: CA2577642032

Gene: PRODH DGCR6

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18913284del , CM000684.2:g.18913284del	GRCh38
NC_000022.10:g.18900797del , CM000684.1:g.18900797del	GRCh37
NC_000022.9:g.17280797del	NCBI36
NG_008226.2:g.28272del
NG_009052.1:g.12062del
NG_008226.3:g.28272del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357068.11:c.1696del (PRODH) MANE Select	ENSP00000349577.6:p.Leu566TrpfsTer7
ENST00000638240.1:c.513+2256del	ENSP00000492446.1:n.513+2256del
ENST00000313755.9:n.2461del (PRODH)
ENST00000334029.6:c.1372del (PRODH)	ENSP00000334726.2:p.Leu458TrpfsTer7
ENST00000357068.10:c.1696del (PRODH)	ENSP00000349577.6:p.Leu566TrpfsTer7
ENST00000420436.5:c.1372del (PRODH)	ENSP00000410805.1:p.Leu458TrpfsTer7
ENST00000429300.5:n.2067del (PRODH)
ENST00000482858.5:n.4176del (PRODH)
ENST00000483718.5:c.*1926del (DGCR6)	ENSP00000467483.1:n.*1926del
ENST00000491604.5:n.2605del (PRODH)
ENST00000610940.4:c.1696del (PRODH)	ENSP00000480347.1:p.Leu566TrpfsTer7
NM_001195226.1:c.1372del (PRODH)	NP_001182155.1:p.Leu458TrpfsTer7
NM_016335.4:c.1696del (PRODH)	NP_057419.4:p.Leu566TrpfsTer7
XM_011530278.1:c.1123del (PRODH)	XP_011528580.1:p.Leu375TrpfsTer7
XM_011530279.1:c.916del (PRODH)	XP_011528581.1:p.Leu306TrpfsTer7
XR_937876.1:n.1763del (PRODH)
NM_005675.5:c.*1595del (DGCR6)	NP_005666.2:n.*1595del
NM_001195226.2:c.1372del (PRODH)	NP_001182155.2:p.Leu458TrpfsTer7
NM_016335.5:c.1696del (PRODH)	NP_057419.5:p.Leu566TrpfsTer7
NM_016335.6:c.1696del (PRODH) MANE Select	NP_057419.5:p.Leu566TrpfsTer7