Canonical Allele Identifier: CA10094872
Gene: PRODH HGNC NCBI
DGCR6 HGNC NCBI

Linked Data

dbSNP Id: rs751254651
ExAC: 22:18900916 CCGTA / C
gnomAD v2: 22-18900916-CCGTA-C
MyVariant Identifiers: chr22:g.18900917_18900920del (hg19) chr22:g.18913404_18913407del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.18913405_18913408del , CM000684.2:g.18913405_18913408del GRCh38
NC_000022.10:g.18900918_18900921del , CM000684.1:g.18900918_18900921del GRCh37
NC_000022.9:g.17280918_17280921del NCBI36
NG_008226.2:g.28147_28150del
NG_009052.1:g.12183_12186del
NG_008226.3:g.28147_28150del

Transcript Alleles

HGVS Amino-acid Change
ENST00000357068.11:c.1615+31_1615+34del (PRODH) MANE Select ENSP00000349577.6:n.1615+31_1615+34del
ENST00000638240.1:c.513+2377_513+2380del ENSP00000492446.1:n.513+2377_513+2380del
ENST00000313755.9:n.2380+31_2380+34del (PRODH)
ENST00000334029.6:c.1291+31_1291+34del (PRODH) ENSP00000334726.2:n.1291+31_1291+34del
ENST00000357068.10:c.1615+31_1615+34del (PRODH) ENSP00000349577.6:n.1615+31_1615+34del
ENST00000420436.5:c.1291+31_1291+34del (PRODH) ENSP00000410805.1:n.1291+31_1291+34del
ENST00000429300.5:n.1986+31_1986+34del (PRODH)
ENST00000482858.5:n.4095+31_4095+34del (PRODH)
ENST00000483718.5:c.*2047_*2050del (DGCR6) ENSP00000467483.1:n.*2047_*2050del
ENST00000491604.5:n.2524+31_2524+34del (PRODH)
ENST00000610940.4:c.1615+31_1615+34del (PRODH) ENSP00000480347.1:n.1615+31_1615+34del
NM_001195226.1:c.1291+31_1291+34del (PRODH) NP_001182155.1:n.1291+31_1291+34del
NM_016335.4:c.1615+31_1615+34del (PRODH) NP_057419.4:n.1615+31_1615+34del
XM_011530278.1:c.1042+31_1042+34del (PRODH) XP_011528580.1:n.1042+31_1042+34del
XM_011530279.1:c.835+31_835+34del (PRODH) XP_011528581.1:n.835+31_835+34del
XR_937876.1:n.1682+31_1682+34del (PRODH)
NM_005675.5:c.*1716_*1719del (DGCR6) NP_005666.2:n.*1716_*1719del
NM_001195226.2:c.1291+31_1291+34del (PRODH) NP_001182155.2:n.1291+31_1291+34del
NM_016335.5:c.1615+31_1615+34del (PRODH) NP_057419.5:n.1615+31_1615+34del
NM_016335.6:c.1615+31_1615+34del (PRODH) MANE Select NP_057419.5:n.1615+31_1615+34del
Search 100 bp 5'
Search 100 bp 3'