Canonical Allele Identifier: CA3276396

Gene: PDE4D

Linked Data

• ClinVar Variation Id: 738468
• ClinVar RCV Id: RCV000914358
• dbSNP Id: rs763628104
• ExAC: 5:58511595 G / GTA
• gnomAD v2: 5-58511595-G-GTA
• gnomAD v3: 5-59215769-G-GTA
• gnomAD v4: 5-59215769-G-GTA
• MyVariant Identifiers: chr5:g.58511595_58511596insTA (hg19) ; chr5:g.59215769_59215770insTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.59215770_59215771dup , CM000667.2:g.59215770_59215771dup	GRCh38
NC_000005.9:g.58511596_58511597dup , CM000667.1:g.58511596_58511597dup	GRCh37
NC_000005.8:g.58547353_58547354dup	NCBI36
NG_027957.1:g.1277329_1277330dup
NG_027957.2:g.1313559_1313560dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507116.6:c.455+6_455+7dup	ENSP00000424852.1:n.455+6_455+7dup
ENST00000340635.11:c.647+6_647+7dup MANE Select	ENSP00000345502.6:n.647+6_647+7dup
ENST00000636120.1:c.317+6_317+7dup	ENSP00000490821.1:n.317+6_317+7dup
ENST00000638939.1:c.212+6_212+7dup	ENSP00000492052.1:n.212+6_212+7dup
ENST00000309641.10:c.455+6_455+7dup	ENSP00000308485.6:n.455+6_455+7dup
ENST00000340635.10:c.647+6_647+7dup	ENSP00000345502.6:n.647+6_647+7dup
ENST00000360047.9:c.239+6_239+7dup	ENSP00000353152.5:n.239+6_239+7dup
ENST00000405053.7:n.310+6_310+7dup
ENST00000405755.6:c.281+6_281+7dup	ENSP00000384806.2:n.281+6_281+7dup
ENST00000502484.6:c.464+6_464+7dup	ENSP00000423094.2:n.464+6_464+7dup
ENST00000502575.1:c.455+6_455+7dup	ENSP00000425917.1:n.455+6_455+7dup
ENST00000503258.5:c.257+6_257+7dup	ENSP00000425605.1:n.257+6_257+7dup
ENST00000505453.1:c.-98-176800_-98-176799dup	ENSP00000421013.1:n.-98-176800_-98-176799dup
ENST00000507116.5:c.455+6_455+7dup	ENSP00000424852.1:n.455+6_455+7dup
ENST00000514231.1:n.416_417dup
ENST00000515324.1:n.159+6_159+7dup
ENST00000546160.5:c.254+6_254+7dup	ENSP00000442734.2:n.254+6_254+7dup
ENST00000621323.4:n.192+6_192+7dup
NM_001104631.1:c.647+6_647+7dup	NP_001098101.1:n.647+6_647+7dup
NM_001165899.1:c.464+6_464+7dup	NP_001159371.1:n.464+6_464+7dup
NM_001197218.1:c.455+6_455+7dup	NP_001184147.1:n.455+6_455+7dup
NM_001197219.1:c.281+6_281+7dup	NP_001184148.1:n.281+6_281+7dup
NM_001197220.1:c.257+6_257+7dup	NP_001184149.1:n.257+6_257+7dup
NM_006203.4:c.239+6_239+7dup	NP_006194.2:n.239+6_239+7dup
XM_005248537.2:c.317+6_317+7dup	XP_005248594.1:n.317+6_317+7dup
XM_005248538.3:c.239+6_239+7dup	XP_005248595.1:n.239+6_239+7dup
XM_011543469.1:c.611+6_611+7dup	XP_011541771.1:n.611+6_611+7dup
XM_011543470.1:c.611+6_611+7dup	XP_011541772.1:n.611+6_611+7dup
XM_011543471.1:c.464+6_464+7dup	XP_011541773.1:n.464+6_464+7dup
XM_011543472.1:c.464+6_464+7dup	XP_011541774.1:n.464+6_464+7dup
XM_011543473.1:c.464+6_464+7dup	XP_011541775.1:n.464+6_464+7dup
XM_011543474.1:c.434+6_434+7dup	XP_011541776.1:n.434+6_434+7dup
XM_011543475.1:c.281+6_281+7dup	XP_011541777.1:n.281+6_281+7dup
XM_011543476.1:c.227+6_227+7dup	XP_011541778.1:n.227+6_227+7dup
XM_011543477.1:c.206+6_206+7dup	XP_011541779.1:n.206+6_206+7dup
XM_011543478.1:c.143+6_143+7dup	XP_011541780.1:n.143+6_143+7dup
XM_011543479.1:c.143+6_143+7dup	XP_011541781.1:n.143+6_143+7dup
NM_001349241.1:c.434+6_434+7dup	NP_001336170.1:n.434+6_434+7dup
NM_001349242.1:c.317+6_317+7dup	NP_001336171.1:n.317+6_317+7dup
NM_001349243.1:c.-48+6_-48+7dup	NP_001336172.1:n.-48+6_-48+7dup
NM_001364599.1:c.464+6_464+7dup	NP_001351528.1:n.464+6_464+7dup
NM_001364600.1:c.464+6_464+7dup	NP_001351529.1:n.464+6_464+7dup
NM_001364601.1:c.*2_*3dup	NP_001351530.1:n.*2_*3dup
NM_001364602.1:c.455+6_455+7dup	NP_001351531.1:n.455+6_455+7dup
NM_001364603.1:c.-304+6_-304+7dup	NP_001351532.1:n.-304+6_-304+7dup
NM_001364604.1:c.-48+6_-48+7dup	NP_001351533.1:n.-48+6_-48+7dup
XM_011543470.2:c.611+6_611+7dup	XP_011541772.1:n.611+6_611+7dup
XM_011543471.2:c.464+6_464+7dup	XP_011541773.1:n.464+6_464+7dup
XM_017009565.1:c.611+6_611+7dup	XP_016865054.1:n.611+6_611+7dup
XM_017009566.1:c.464+6_464+7dup	XP_016865055.1:n.464+6_464+7dup
XM_017009567.1:c.449+6_449+7dup	XP_016865056.1:n.449+6_449+7dup
XM_024446110.1:c.611+6_611+7dup	XP_024301878.1:n.611+6_611+7dup
XM_024446112.1:c.464+6_464+7dup	XP_024301880.1:n.464+6_464+7dup
NM_001104631.2:c.647+6_647+7dup MANE Select	NP_001098101.1:n.647+6_647+7dup
NM_001165899.2:c.464+6_464+7dup	NP_001159371.1:n.464+6_464+7dup
NM_001197218.2:c.455+6_455+7dup	NP_001184147.1:n.455+6_455+7dup
NM_001197219.2:c.281+6_281+7dup	NP_001184148.1:n.281+6_281+7dup
NM_001197220.2:c.257+6_257+7dup	NP_001184149.1:n.257+6_257+7dup
NM_001349241.2:c.434+6_434+7dup	NP_001336170.1:n.434+6_434+7dup
NM_001349243.2:c.-48+6_-48+7dup	NP_001336172.1:n.-48+6_-48+7dup
NM_001364600.2:c.464+6_464+7dup	NP_001351529.1:n.464+6_464+7dup
NM_001364602.2:c.455+6_455+7dup	NP_001351531.1:n.455+6_455+7dup
NM_001349242.2:c.317+6_317+7dup	NP_001336171.1:n.317+6_317+7dup
NM_006203.5:c.239+6_239+7dup	NP_006194.2:n.239+6_239+7dup