Canonical Allele Identifier: CA638502667

Gene: PRODH DGCR6

Linked Data

• gnomAD v2: 22-18900645-C-CGGGGGA
• MyVariant Identifiers: chr22:g.18900645_18900646insGGGGGA (hg19) ; chr22:g.18913132_18913133insGGGGGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18913137_18913138insAGGGGG , CM000684.2:g.18913137_18913138insAGGGGG	GRCh38
NC_000022.10:g.18900650_18900651insAGGGGG , CM000684.1:g.18900650_18900651insAGGGGG	GRCh37
NC_000022.9:g.17280650_17280651insAGGGGG	NCBI36
NG_008226.2:g.28421_28422insTCCCCC
NG_009052.1:g.11915_11916insAGGGGG
NG_008226.3:g.28421_28422insTCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357068.11:c.*42_*43insTCCCCC (PRODH) MANE Select	ENSP00000349577.6:n.*42_*43insTCCCCC
ENST00000638240.1:c.513+2109_513+2110insAGGGGG	ENSP00000492446.1:n.513+2109_513+2110insAGGGGG
ENST00000313755.9:n.2610_2611insTCCCCC (PRODH)
ENST00000334029.6:c.*42_*43insTCCCCC (PRODH)	ENSP00000334726.2:n.*42_*43insTCCCCC
ENST00000357068.10:c.*42_*43insTCCCCC (PRODH)	ENSP00000349577.6:n.*42_*43insTCCCCC
ENST00000420436.5:c.*42_*43insTCCCCC (PRODH)	ENSP00000410805.1:n.*42_*43insTCCCCC
ENST00000429300.5:n.2216_2217insTCCCCC (PRODH)
ENST00000482858.5:n.4325_4326insTCCCCC (PRODH)
ENST00000483718.5:c.*1779_*1780insAGGGGG (DGCR6)	ENSP00000467483.1:n.*1779_*1780insAGGGGG
ENST00000491604.5:n.2754_2755insTCCCCC (PRODH)
ENST00000610940.4:c.*42_*43insTCCCCC (PRODH)	ENSP00000480347.1:n.*42_*43insTCCCCC
NM_001195226.1:c.*42_*43insTCCCCC (PRODH)	NP_001182155.1:n.*42_*43insTCCCCC
NM_016335.4:c.*42_*43insTCCCCC (PRODH)	NP_057419.4:n.*42_*43insTCCCCC
XM_011530278.1:c.*42_*43insTCCCCC (PRODH)	XP_011528580.1:n.*42_*43insTCCCCC
XM_011530279.1:c.*42_*43insTCCCCC (PRODH)	XP_011528581.1:n.*42_*43insTCCCCC
XR_937876.1:n.1912_1913insTCCCCC (PRODH)
NM_005675.5:c.*1448_*1449insAGGGGG (DGCR6)	NP_005666.2:n.*1448_*1449insAGGGGG
NM_001195226.2:c.*42_*43insTCCCCC (PRODH)	NP_001182155.2:n.*42_*43insTCCCCC
NM_016335.5:c.*42_*43insTCCCCC (PRODH)	NP_057419.5:n.*42_*43insTCCCCC
NM_016335.6:c.*42_*43insTCCCCC (PRODH) MANE Select	NP_057419.5:n.*42_*43insTCCCCC