Canonical Allele Identifier: CA2818372249

Gene: PRODH DGCR6

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18913460_18913474del , CM000684.2:g.18913460_18913474del	GRCh38
NC_000022.10:g.18900973_18900987del , CM000684.1:g.18900973_18900987del	GRCh37
NC_000022.9:g.17280973_17280987del	NCBI36
NG_008226.2:g.28080_28094del
NG_009052.1:g.12238_12252del
NG_008226.3:g.28080_28094del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357068.11:c.1579_1593del (PRODH) MANE Select	ENSP00000349577.6:p.Leu527_Cys531del
ENST00000638240.1:c.513+2432_513+2446del	ENSP00000492446.1:n.513+2432_513+2446del
ENST00000313755.9:n.2344_2358del (PRODH)
ENST00000334029.6:c.1255_1269del (PRODH)	ENSP00000334726.2:p.Leu419_Cys423del
ENST00000357068.10:c.1579_1593del (PRODH)	ENSP00000349577.6:p.Leu527_Cys531del
ENST00000420436.5:c.1255_1269del (PRODH)	ENSP00000410805.1:p.Leu419_Cys423del
ENST00000429300.5:n.1950_1964del (PRODH)
ENST00000482858.5:n.4059_4073del (PRODH)
ENST00000483718.5:c.*2102_*2116del (DGCR6)	ENSP00000467483.1:n.*2102_*2116del
ENST00000491604.5:n.2488_2502del (PRODH)
ENST00000610940.4:c.1579_1593del (PRODH)	ENSP00000480347.1:p.Leu527_Cys531del
NM_001195226.1:c.1255_1269del (PRODH)	NP_001182155.1:p.Leu419_Cys423del
NM_016335.4:c.1579_1593del (PRODH)	NP_057419.4:p.Leu527_Cys531del
XM_011530278.1:c.1006_1020del (PRODH)	XP_011528580.1:p.Leu336_Cys340del
XM_011530279.1:c.799_813del (PRODH)	XP_011528581.1:p.Leu267_Cys271del
XR_937876.1:n.1646_1660del (PRODH)
NM_005675.5:c.*1771_*1785del (DGCR6)	NP_005666.2:n.*1771_*1785del
NM_001195226.2:c.1255_1269del (PRODH)	NP_001182155.2:p.Leu419_Cys423del
NM_016335.5:c.1579_1593del (PRODH)	NP_057419.5:p.Leu527_Cys531del
NM_016335.6:c.1579_1593del (PRODH) MANE Select	NP_057419.5:p.Leu527_Cys531del