Canonical Allele Identifier: CA2818372258

Gene: PRODH DGCR6

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18913524del , CM000684.2:g.18913524del	GRCh38
NC_000022.10:g.18901037del , CM000684.1:g.18901037del	GRCh37
NC_000022.9:g.17281037del	NCBI36
NG_008226.2:g.28030del
NG_009052.1:g.12302del
NG_008226.3:g.28030del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357068.11:c.1529del (PRODH) MANE Select	ENSP00000349577.6:p.Met510ArgfsTer19
ENST00000638240.1:c.513+2496del	ENSP00000492446.1:n.513+2496del
ENST00000313755.9:n.2294del (PRODH)
ENST00000334029.6:c.1205del (PRODH)	ENSP00000334726.2:p.Met402ArgfsTer19
ENST00000357068.10:c.1529del (PRODH)	ENSP00000349577.6:p.Met510ArgfsTer19
ENST00000420436.5:c.1205del (PRODH)	ENSP00000410805.1:p.Met402ArgfsTer19
ENST00000429300.5:n.1900del (PRODH)
ENST00000482858.5:n.4009del (PRODH)
ENST00000483718.5:c.*2166del (DGCR6)	ENSP00000467483.1:n.*2166del
ENST00000491604.5:n.2438del (PRODH)
ENST00000610940.4:c.1529del (PRODH)	ENSP00000480347.1:p.Met510ArgfsTer19
NM_001195226.1:c.1205del (PRODH)	NP_001182155.1:p.Met402ArgfsTer19
NM_016335.4:c.1529del (PRODH)	NP_057419.4:p.Met510ArgfsTer19
XM_011530278.1:c.956del (PRODH)	XP_011528580.1:p.Met319ArgfsTer19
XM_011530279.1:c.749del (PRODH)	XP_011528581.1:p.Met250ArgfsTer19
XR_937876.1:n.1596del (PRODH)
NM_005675.5:c.*1835del (DGCR6)	NP_005666.2:n.*1835del
NM_001195226.2:c.1205del (PRODH)	NP_001182155.2:p.Met402ArgfsTer19
NM_016335.5:c.1529del (PRODH)	NP_057419.5:p.Met510ArgfsTer19
NM_016335.6:c.1529del (PRODH) MANE Select	NP_057419.5:p.Met510ArgfsTer19