Canonical Allele Identifier: CA2395633486

Linked Data

dbSNP Id: rs2081916636

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.18913079_18913080del , CM000684.2:g.18913079_18913080del GRCh38
NC_000022.10:g.18900592_18900593del , CM000684.1:g.18900592_18900593del GRCh37
NC_000022.9:g.17280592_17280593del NCBI36
NG_008226.2:g.28478_28479del
NG_009052.1:g.11857_11858del
NG_008226.3:g.28478_28479del

Transcript Alleles

HGVS Amino-acid Change
ENST00000357068.11:c.*99_*100del (PRODH) MANE Select ENSP00000349577.6:n.*99_*100del
ENST00000638240.1:c.513+2051_513+2052del ENSP00000492446.1:n.513+2051_513+2052del
ENST00000313755.9:n.2667_2668del (PRODH)
ENST00000334029.6:c.*99_*100del (PRODH) ENSP00000334726.2:n.*99_*100del
ENST00000357068.10:c.*99_*100del (PRODH) ENSP00000349577.6:n.*99_*100del
ENST00000420436.5:c.*99_*100del (PRODH) ENSP00000410805.1:n.*99_*100del
ENST00000429300.5:n.2273_2274del (PRODH)
ENST00000482858.5:n.4382_4383del (PRODH)
ENST00000483718.5:c.*1721_*1722del (DGCR6) ENSP00000467483.1:n.*1721_*1722del
ENST00000491604.5:n.2811_2812del (PRODH)
ENST00000610940.4:c.*99_*100del (PRODH) ENSP00000480347.1:n.*99_*100del
NM_001195226.1:c.*99_*100del (PRODH) NP_001182155.1:n.*99_*100del
NM_016335.4:c.*99_*100del (PRODH) NP_057419.4:n.*99_*100del
XM_011530278.1:c.*99_*100del (PRODH) XP_011528580.1:n.*99_*100del
XM_011530279.1:c.*99_*100del (PRODH) XP_011528581.1:n.*99_*100del
XR_937876.1:n.1969_1970del (PRODH)
NM_005675.5:c.*1390_*1391del (DGCR6) NP_005666.2:n.*1390_*1391del
NM_001195226.2:c.*99_*100del (PRODH) NP_001182155.2:n.*99_*100del
NM_016335.5:c.*99_*100del (PRODH) NP_057419.5:n.*99_*100del
NM_016335.6:c.*99_*100del (PRODH) MANE Select NP_057419.5:n.*99_*100del