Canonical Allele Identifier: CA1024068988

Gene: PRODH DGCR6

Linked Data

• dbSNP Id: rs2081920654
• gnomAD v3: 22-18913404-C-CGTA
• gnomAD v4: 22-18913404-C-CGTA

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18913405_18913407dup , CM000684.2:g.18913405_18913407dup	GRCh38
NC_000022.10:g.18900918_18900920dup , CM000684.1:g.18900918_18900920dup	GRCh37
NC_000022.9:g.17280918_17280920dup	NCBI36
NG_008226.2:g.28147_28149dup
NG_009052.1:g.12183_12185dup
NG_008226.3:g.28147_28149dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357068.11:c.1615+31_1615+33dup (PRODH) MANE Select	ENSP00000349577.6:n.1615+31_1615+33dup
ENST00000638240.1:c.513+2377_513+2379dup	ENSP00000492446.1:n.513+2377_513+2379dup
ENST00000313755.9:n.2380+31_2380+33dup (PRODH)
ENST00000334029.6:c.1291+31_1291+33dup (PRODH)	ENSP00000334726.2:n.1291+31_1291+33dup
ENST00000357068.10:c.1615+31_1615+33dup (PRODH)	ENSP00000349577.6:n.1615+31_1615+33dup
ENST00000420436.5:c.1291+31_1291+33dup (PRODH)	ENSP00000410805.1:n.1291+31_1291+33dup
ENST00000429300.5:n.1986+31_1986+33dup (PRODH)
ENST00000482858.5:n.4095+31_4095+33dup (PRODH)
ENST00000483718.5:c.*2047_*2049dup (DGCR6)	ENSP00000467483.1:n.*2047_*2049dup
ENST00000491604.5:n.2524+31_2524+33dup (PRODH)
ENST00000610940.4:c.1615+31_1615+33dup (PRODH)	ENSP00000480347.1:n.1615+31_1615+33dup
NM_001195226.1:c.1291+31_1291+33dup (PRODH)	NP_001182155.1:n.1291+31_1291+33dup
NM_016335.4:c.1615+31_1615+33dup (PRODH)	NP_057419.4:n.1615+31_1615+33dup
XM_011530278.1:c.1042+31_1042+33dup (PRODH)	XP_011528580.1:n.1042+31_1042+33dup
XM_011530279.1:c.835+31_835+33dup (PRODH)	XP_011528581.1:n.835+31_835+33dup
XR_937876.1:n.1682+31_1682+33dup (PRODH)
NM_005675.5:c.*1716_*1718dup (DGCR6)	NP_005666.2:n.*1716_*1718dup
NM_001195226.2:c.1291+31_1291+33dup (PRODH)	NP_001182155.2:n.1291+31_1291+33dup
NM_016335.5:c.1615+31_1615+33dup (PRODH)	NP_057419.5:n.1615+31_1615+33dup
NM_016335.6:c.1615+31_1615+33dup (PRODH) MANE Select	NP_057419.5:n.1615+31_1615+33dup