Canonical Allele Identifier: CA8729879
Community Standard Title: NM_017565.4(FAM20A):c.915_918del (p.Phe305LeufsTer?)
Gene: PRKAR1A HGNC NCBI
FAM20A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.68542707_68542710del , CM000679.2:g.68542707_68542710del GRCh38
NC_000017.10:g.66538848_66538851del , CM000679.1:g.66538848_66538851del GRCh37
NC_000017.9:g.64050443_64050446del NCBI36
NG_007093.3:g.134085_134088del , LRG_514:g.134085_134088del
NG_029809.1:g.63248_63251del

Transcript Alleles

HGVS Amino-acid Change
NM_017565.4:c.915_918del (FAM20A) MANE Select NP_060035.2:p.Phe305LeufsTer?
ENST00000592554.2:c.915_918del (FAM20A) MANE Select ENSP00000468308.1:p.Phe305LeufsTer?
NM_001243746.1:c.501_504del (FAM20A) NP_001230675.1:p.Phe167LeufsTer?
NM_001243746.2:c.501_504del (FAM20A) NP_001230675.1:p.Phe167LeufsTer?
NM_001276290.1:c.974-8377_974-8374del (PRKAR1A) NP_001263219.1:n.974-8377_974-8374del
NM_017565.3:c.915_918del (FAM20A) NP_060035.2:p.Phe305LeufsTer?
NR_027751.1:n.605_608del (FAM20A)
NR_027751.2:n.605_608del (FAM20A)
ENST00000226094.9:n.568_571del (FAM20A)
ENST00000585981.6:c.974-8377_974-8374del (PRKAR1A) ENSP00000467311.2:n.974-8377_974-8374del
ENST00000588188.6:c.974-8377_974-8374del (PRKAR1A) ENSP00000468106.2:n.974-8377_974-8374del
ENST00000588188.7:c.974-8377_974-8374del (PRKAR1A) ENSP00000468106.2:n.974-8377_974-8374del
ENST00000590074.5:c.1071_1074del (FAM20A)
ENST00000590873.5:c.41+922_41+925del (FAM20A) ENSP00000467884.1:n.41+922_41+925del
ENST00000592554.1:c.915_918del (FAM20A) ENSP00000468308.1:p.Phe305LeufsTer?
ENST00000592847.1:n.557_560del (FAM20A)
ENST00000711037.1:c.974-8377_974-8374del (PRKAR1A) ENSP00000518555.1:n.974-8377_974-8374del
XM_006721959.2:c.501_504del (FAM20A) XP_006722022.1:p.Phe167LeufsTer?
XM_006721959.3:c.501_504del (FAM20A) XP_006722022.1:p.Phe167LeufsTer?
XM_006721960.2:c.915_918del (FAM20A) XP_006722023.1:p.Phe305LeufsTer?
XM_011524917.1:c.809-542_809-539del (FAM20A) XP_011523219.1:n.809-542_809-539del
XM_011524918.1:c.915_918del (FAM20A) XP_011523220.1:p.Phe305LeufsTer?
XM_011524918.3:c.915_918del (FAM20A) XP_011523220.1:p.Phe305LeufsTer?
XM_011524919.1:c.813-542_813-539del (FAM20A) XP_011523221.1:n.813-542_813-539del
XM_011524920.1:c.813-542_813-539del (FAM20A) XP_011523222.1:n.813-542_813-539del
XM_011524921.1:c.813-542_813-539del (FAM20A) XP_011523223.1:n.813-542_813-539del
XM_017024781.2:c.915_918del (FAM20A) XP_016880270.1:p.Phe305LeufsTer?
XR_001752543.2:n.986_989del (FAM20A)
XR_001752544.2:n.986_989del (FAM20A)
XR_002958041.1:n.986_989del (FAM20A)
XR_429905.1:n.1039_1042del (FAM20A)
XR_429905.2:n.982_985del (FAM20A)
XR_934486.1:n.1043_1046del (FAM20A)
XR_934487.1:n.1043_1046del (FAM20A)
XR_934487.3:n.986_989del (FAM20A)
XR_934488.1:n.1043_1046del (FAM20A)
XR_934489.1:n.941-542_941-539del (FAM20A)
XR_934490.1:n.941-542_941-539del (FAM20A)