Canonical Allele Identifier: CA2794552

Gene: PDE6B

Linked Data

• ClinVar Variation Id: 835410
• ClinVar RCV Id: RCV001036289
• dbSNP Id: rs764601732
• ExAC: 4:654253 CAGA / C
• gnomAD v2: 4-654253-CAGA-C
• gnomAD v3: 4-660464-CAGA-C
• gnomAD v4: 4-660464-CAGA-C
• MyVariant Identifiers: chr4:g.654254_654256del (hg19) ; chr4:g.660465_660467del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.660467_660469del , CM000666.2:g.660467_660469del	GRCh38
NC_000004.11:g.654256_654258del , CM000666.1:g.654256_654258del	GRCh37
NC_000004.10:g.644256_644258del	NCBI36
NG_009839.1:g.39894_39896del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.1468_1470del
ENST00000255622.10:c.1468_1470del
ENST00000429163.6:c.631_633del
ENST00000496514.5:c.1468_1470del
NM_000283.3:c.1468_1470del
NM_001145291.1:c.1468_1470del
NM_001145292.1:c.631_633del
XM_011513473.1:c.1687_1689del
XM_011513474.1:c.1687_1689del
XM_011513475.1:c.1468_1470del
XM_011513476.1:c.1687_1689del
XM_011513477.1:c.673_675del
XM_011513478.1:c.397_399del
NM_001350154.1:c.631_633del
NM_001350155.1:c.313_315del
XM_011513473.3:c.1687_1689del
XM_011513474.3:c.1687_1689del
XM_011513475.2:c.1468_1470del
XM_011513476.3:c.1687_1689del
XM_011513478.2:c.397_399del
XM_017008284.1:c.631_633del
XM_017008285.1:c.631_633del
XM_017008286.1:c.631_633del
NM_001350154.2:c.631_633del
NM_001350155.2:c.313_315del
NM_000283.4:c.1468_1470del
NM_001145291.2:c.1468_1470del
NM_001145292.2:c.631_633del
NM_001350154.3:c.631_633del
NM_001350155.3:c.313_315del
NM_001379246.1:c.631_633del
NM_001379247.1:c.631_633del