Canonical Allele Identifier: CA10094870

Gene: PRODH DGCR6

Linked Data

• dbSNP Id: rs763768502
• ExAC: 22:18900912 AGCACCGTACCCCATC / A
• gnomAD v2: 22-18900912-AGCACCGTACCCCATC-A
• MyVariant Identifiers: chr22:g.18900913_18900927del (hg19) ; chr22:g.18913400_18913414del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18913405_18913419del , CM000684.2:g.18913405_18913419del	GRCh38
NC_000022.10:g.18900918_18900932del , CM000684.1:g.18900918_18900932del	GRCh37
NC_000022.9:g.17280918_17280932del	NCBI36
NG_008226.2:g.28140_28154del
NG_009052.1:g.12183_12197del
NG_008226.3:g.28140_28154del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357068.11:c.1615+24_1616-38del (PRODH) MANE Select	ENSP00000349577.6:n.1615+24_1616-38del
ENST00000638240.1:c.513+2377_513+2391del	ENSP00000492446.1:n.513+2377_513+2391del
ENST00000313755.9:n.2380+24_2381-38del (PRODH)
ENST00000334029.6:c.1291+24_1292-38del (PRODH)	ENSP00000334726.2:n.1291+24_1292-38del
ENST00000357068.10:c.1615+24_1616-38del (PRODH)	ENSP00000349577.6:n.1615+24_1616-38del
ENST00000420436.5:c.1291+24_1292-38del (PRODH)	ENSP00000410805.1:n.1291+24_1292-38del
ENST00000429300.5:n.1986+24_1987-38del (PRODH)
ENST00000482858.5:n.4095+24_4096-38del (PRODH)
ENST00000483718.5:c.*2047_*2061del (DGCR6)	ENSP00000467483.1:n.*2047_*2061del
ENST00000491604.5:n.2524+24_2525-38del (PRODH)
ENST00000610940.4:c.1615+24_1616-38del (PRODH)	ENSP00000480347.1:n.1615+24_1616-38del
NM_001195226.1:c.1291+24_1292-38del (PRODH)	NP_001182155.1:n.1291+24_1292-38del
NM_016335.4:c.1615+24_1616-38del (PRODH)	NP_057419.4:n.1615+24_1616-38del
XM_011530278.1:c.1042+24_1043-38del (PRODH)	XP_011528580.1:n.1042+24_1043-38del
XM_011530279.1:c.835+24_836-38del (PRODH)	XP_011528581.1:n.835+24_836-38del
XR_937876.1:n.1682+24_1683-38del (PRODH)
NM_005675.5:c.*1716_*1730del (DGCR6)	NP_005666.2:n.*1716_*1730del
NM_001195226.2:c.1291+24_1292-38del (PRODH)	NP_001182155.2:n.1291+24_1292-38del
NM_016335.5:c.1615+24_1616-38del (PRODH)	NP_057419.5:n.1615+24_1616-38del
NM_016335.6:c.1615+24_1616-38del (PRODH) MANE Select	NP_057419.5:n.1615+24_1616-38del