Canonical Allele Identifier: CA1024069041

Gene: PRODH DGCR6

Linked Data

• dbSNP Id: rs2081922927
• gnomAD v3: 22-18913620-TG-T
• gnomAD v4: 22-18913620-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18913621del , CM000684.2:g.18913621del	GRCh38
NC_000022.10:g.18901134del , CM000684.1:g.18901134del	GRCh37
NC_000022.9:g.17281134del	NCBI36
NG_008226.2:g.27933del
NG_009052.1:g.12399del
NG_008226.3:g.27933del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357068.11:c.1527-95del (PRODH) MANE Select	ENSP00000349577.6:n.1527-95del
ENST00000638240.1:c.513+2593del	ENSP00000492446.1:n.513+2593del
ENST00000313755.9:n.2292-95del (PRODH)
ENST00000334029.6:c.1203-95del (PRODH)	ENSP00000334726.2:n.1203-95del
ENST00000357068.10:c.1527-95del (PRODH)	ENSP00000349577.6:n.1527-95del
ENST00000420436.5:c.1203-95del (PRODH)	ENSP00000410805.1:n.1203-95del
ENST00000429300.5:n.1898-95del (PRODH)
ENST00000482858.5:n.4007-95del (PRODH)
ENST00000483718.5:c.*2263del (DGCR6)	ENSP00000467483.1:n.*2263del
ENST00000491604.5:n.2436-95del (PRODH)
ENST00000610940.4:c.1527-95del (PRODH)	ENSP00000480347.1:n.1527-95del
NM_001195226.1:c.1203-95del (PRODH)	NP_001182155.1:n.1203-95del
NM_016335.4:c.1527-95del (PRODH)	NP_057419.4:n.1527-95del
XM_011530278.1:c.954-95del (PRODH)	XP_011528580.1:n.954-95del
XM_011530279.1:c.747-95del (PRODH)	XP_011528581.1:n.747-95del
XR_937876.1:n.1594-95del (PRODH)
NM_005675.5:c.*1932del (DGCR6)	NP_005666.2:n.*1932del
NM_001195226.2:c.1203-95del (PRODH)	NP_001182155.2:n.1203-95del
NM_016335.5:c.1527-95del (PRODH)	NP_057419.5:n.1527-95del
NM_016335.6:c.1527-95del (PRODH) MANE Select	NP_057419.5:n.1527-95del