Canonical Allele Identifier: CA2695227013
Gene: PRKAR1A HGNC NCBI
FAM20A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.68542710_68542711del , CM000679.2:g.68542710_68542711del GRCh38
NC_000017.10:g.66538851_66538852del , CM000679.1:g.66538851_66538852del GRCh37
NC_000017.9:g.64050446_64050447del NCBI36
NG_007093.3:g.134088_134089del , LRG_514:g.134088_134089del
NG_029809.1:g.63246_63247del

Transcript Alleles

HGVS Amino-acid Change
ENST00000588188.7:c.974-8374_974-8373del (PRKAR1A) ENSP00000468106.2:n.974-8374_974-8373del
ENST00000711037.1:c.974-8374_974-8373del (PRKAR1A) ENSP00000518555.1:n.974-8374_974-8373del
ENST00000585981.6:c.974-8374_974-8373del (PRKAR1A) ENSP00000467311.2:n.974-8374_974-8373del
ENST00000592554.2:c.913_914del (FAM20A) MANE Select ENSP00000468308.1:p.Phe305LeufsTer?
ENST00000226094.9:n.566_567del (FAM20A)
ENST00000588188.6:c.974-8374_974-8373del (PRKAR1A) ENSP00000468106.2:n.974-8374_974-8373del
ENST00000590074.5:c.1069_1070del (FAM20A)
ENST00000590873.5:c.41+920_41+921del (FAM20A) ENSP00000467884.1:n.41+920_41+921del
ENST00000592554.1:c.913_914del (FAM20A) ENSP00000468308.1:p.Phe305LeufsTer?
ENST00000592847.1:n.555_556del (FAM20A)
NM_001243746.1:c.499_500del (FAM20A) NP_001230675.1:p.Phe167LeufsTer?
NM_001276290.1:c.974-8374_974-8373del (PRKAR1A) NP_001263219.1:n.974-8374_974-8373del
NM_017565.3:c.913_914del (FAM20A) NP_060035.2:p.Phe305LeufsTer?
NR_027751.1:n.603_604del (FAM20A)
XM_006721959.2:c.499_500del (FAM20A) XP_006722022.1:p.Phe167LeufsTer?
XM_006721960.2:c.913_914del (FAM20A) XP_006722023.1:p.Phe305LeufsTer?
XM_011524917.1:c.809-544_809-543del (FAM20A) XP_011523219.1:n.809-544_809-543del
XM_011524918.1:c.913_914del (FAM20A) XP_011523220.1:p.Phe305LeufsTer?
XM_011524919.1:c.813-544_813-543del (FAM20A) XP_011523221.1:n.813-544_813-543del
XM_011524920.1:c.813-544_813-543del (FAM20A) XP_011523222.1:n.813-544_813-543del
XM_011524921.1:c.813-544_813-543del (FAM20A) XP_011523223.1:n.813-544_813-543del
XR_429905.1:n.1037_1038del (FAM20A)
XR_934486.1:n.1041_1042del (FAM20A)
XR_934487.1:n.1041_1042del (FAM20A)
XR_934488.1:n.1041_1042del (FAM20A)
XR_934489.1:n.941-544_941-543del (FAM20A)
XR_934490.1:n.941-544_941-543del (FAM20A)
XM_006721959.3:c.499_500del (FAM20A) XP_006722022.1:p.Phe167LeufsTer?
XM_011524918.3:c.913_914del (FAM20A) XP_011523220.1:p.Phe305LeufsTer?
XM_017024781.2:c.913_914del (FAM20A) XP_016880270.1:p.Phe305LeufsTer?
XR_001752543.2:n.984_985del (FAM20A)
XR_001752544.2:n.984_985del (FAM20A)
XR_002958041.1:n.984_985del (FAM20A)
XR_429905.2:n.980_981del (FAM20A)
XR_934487.3:n.984_985del (FAM20A)
NM_017565.4:c.913_914del (FAM20A) MANE Select NP_060035.2:p.Phe305LeufsTer?
NM_001243746.2:c.499_500del (FAM20A) NP_001230675.1:p.Phe167LeufsTer?
NR_027751.2:n.603_604del (FAM20A)