Canonical Allele Identifier: CA812695607

Gene: PDE4D

Linked Data

• dbSNP Id: rs1387933239
• gnomAD v3: 5-60487222-T-TA
• gnomAD v4: 5-60487222-T-TA
• MyVariant Identifiers: chr5:g.59783049_59783050insA (hg19) ; chr5:g.60487222_60487223insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60487224dup , CM000667.2:g.60487224dup	GRCh38
NC_000005.9:g.59783051dup , CM000667.1:g.59783051dup	GRCh37
NC_000005.8:g.59818808dup	NCBI36
NG_027957.1:g.5876dup
NG_027957.2:g.42107dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502484.6:c.-90+719dup	ENSP00000423094.2:n.-90+719dup
ENST00000505507.6:c.-213+719dup	ENSP00000425910.2:n.-213+719dup
ENST00000506510.6:n.70+34828dup
ENST00000509355.5:n.157+719dup
ENST00000511382.1:n.124+719dup
ENST00000515835.2:c.-213+719dup	ENSP00000424281.2:n.-213+719dup
NM_001165899.1:c.-90+719dup	NP_001159371.1:n.-90+719dup
XM_011543472.1:c.-90+34828dup	XP_011541774.1:n.-90+34828dup
NM_001349241.1:c.-193+719dup	NP_001336170.1:n.-193+719dup
NM_001349243.1:c.-674+719dup	NP_001336172.1:n.-674+719dup
NM_001364599.1:c.-90+8916dup	NP_001351528.1:n.-90+8916dup
XM_017009566.1:c.-139+719dup	XP_016865055.1:n.-139+719dup
XM_024446110.1:c.-90+34828dup	XP_024301878.1:n.-90+34828dup
XM_024446112.1:c.-90+34828dup	XP_024301880.1:n.-90+34828dup
NM_001165899.2:c.-90+719dup	NP_001159371.1:n.-90+719dup
NM_001349241.2:c.-193+719dup	NP_001336170.1:n.-193+719dup
NM_001349243.2:c.-674+719dup	NP_001336172.1:n.-674+719dup