Canonical Allele Identifier: CA638502675

Gene: PRODH DGCR6

Linked Data

• dbSNP Id: rs1455992792
• gnomAD v2: 22-18900655-GGGTGCTGGAGGCTAAGGGTGTGCTGGC-G
• gnomAD v3: 22-18913142-GGGTGCTGGAGGCTAAGGGTGTGCTGGC-G
• gnomAD v4: 22-18913142-GGGTGCTGGAGGCTAAGGGTGTGCTGGC-G
• MyVariant Identifiers: chr22:g.18900656_18900682del (hg19) ; chr22:g.18913143_18913169del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18913145_18913171del , CM000684.2:g.18913145_18913171del	GRCh38
NC_000022.10:g.18900658_18900684del , CM000684.1:g.18900658_18900684del	GRCh37
NC_000022.9:g.17280658_17280684del	NCBI36
NG_008226.2:g.28385_28411del
NG_009052.1:g.11923_11949del
NG_008226.3:g.28385_28411del

Transcript Alleles

HGVS	Amino-acid change
ENST00000357068.11:c.*6_*32del (PRODH) MANE Select	ENSP00000349577.6:n.*6_*32del
ENST00000638240.1:c.513+2117_513+2143del	ENSP00000492446.1:n.513+2117_513+2143del
ENST00000313755.9:n.2574_2600del (PRODH)
ENST00000334029.6:c.*6_*32del (PRODH)	ENSP00000334726.2:n.*6_*32del
ENST00000357068.10:c.*6_*32del (PRODH)	ENSP00000349577.6:n.*6_*32del
ENST00000420436.5:c.*6_*32del (PRODH)	ENSP00000410805.1:n.*6_*32del
ENST00000429300.5:n.2180_2206del (PRODH)
ENST00000482858.5:n.4289_4315del (PRODH)
ENST00000483718.5:c.*1787_*1813del (DGCR6)	ENSP00000467483.1:n.*1787_*1813del
ENST00000491604.5:n.2718_2744del (PRODH)
ENST00000610940.4:c.*6_*32del (PRODH)	ENSP00000480347.1:n.*6_*32del
NM_001195226.1:c.*6_*32del (PRODH)	NP_001182155.1:n.*6_*32del
NM_016335.4:c.*6_*32del (PRODH)	NP_057419.4:n.*6_*32del
XM_011530278.1:c.*6_*32del (PRODH)	XP_011528580.1:n.*6_*32del
XM_011530279.1:c.*6_*32del (PRODH)	XP_011528581.1:n.*6_*32del
XR_937876.1:n.1876_1902del (PRODH)
NM_005675.5:c.*1456_*1482del (DGCR6)	NP_005666.2:n.*1456_*1482del
NM_001195226.2:c.*6_*32del (PRODH)	NP_001182155.2:n.*6_*32del
NM_016335.5:c.*6_*32del (PRODH)	NP_057419.5:n.*6_*32del
NM_016335.6:c.*6_*32del (PRODH) MANE Select	NP_057419.5:n.*6_*32del