Canonical Allele Identifier: CA2272265108

Gene: PRKAR1A FAM20A

Linked Data

• dbSNP Id: rs2086366055
• gnomAD v4: 17-68542782-TGGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.68542786_68542788del , CM000679.2:g.68542786_68542788del	GRCh38
NC_000017.10:g.66538927_66538929del , CM000679.1:g.66538927_66538929del	GRCh37
NC_000017.9:g.64050522_64050524del	NCBI36
NG_007093.3:g.134164_134166del , LRG_514:g.134164_134166del
NG_029809.1:g.63170_63172del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588188.7:c.974-8298_974-8296del (PRKAR1A)	ENSP00000468106.2:n.974-8298_974-8296del
ENST00000711037.1:c.974-8298_974-8296del (PRKAR1A)	ENSP00000518555.1:n.974-8298_974-8296del
ENST00000585981.6:c.974-8298_974-8296del (PRKAR1A)	ENSP00000467311.2:n.974-8298_974-8296del
ENST00000592554.2:c.837_839del (FAM20A) MANE Select	ENSP00000468308.1:p.Pro280del
ENST00000226094.9:n.490_492del (FAM20A)
ENST00000588188.6:c.974-8298_974-8296del (PRKAR1A)	ENSP00000468106.2:n.974-8298_974-8296del
ENST00000590074.5:c.993_995del (FAM20A)
ENST00000590873.5:c.41+844_41+846del (FAM20A)	ENSP00000467884.1:n.41+844_41+846del
ENST00000592554.1:c.837_839del (FAM20A)	ENSP00000468308.1:p.Pro280del
ENST00000592847.1:n.479_481del (FAM20A)
NM_001243746.1:c.423_425del (FAM20A)	NP_001230675.1:p.Pro142del
NM_001276290.1:c.974-8298_974-8296del (PRKAR1A)	NP_001263219.1:n.974-8298_974-8296del
NM_017565.3:c.837_839del (FAM20A)	NP_060035.2:p.Pro280del
NR_027751.1:n.527_529del (FAM20A)
XM_006721959.2:c.423_425del (FAM20A)	XP_006722022.1:p.Pro142del
XM_006721960.2:c.837_839del (FAM20A)	XP_006722023.1:p.Pro280del
XM_011524917.1:c.809-620_809-618del (FAM20A)	XP_011523219.1:n.809-620_809-618del
XM_011524918.1:c.837_839del (FAM20A)	XP_011523220.1:p.Pro280del
XM_011524919.1:c.813-620_813-618del (FAM20A)	XP_011523221.1:n.813-620_813-618del
XM_011524920.1:c.813-620_813-618del (FAM20A)	XP_011523222.1:n.813-620_813-618del
XM_011524921.1:c.813-620_813-618del (FAM20A)	XP_011523223.1:n.813-620_813-618del
XR_429905.1:n.961_963del (FAM20A)
XR_934486.1:n.965_967del (FAM20A)
XR_934487.1:n.965_967del (FAM20A)
XR_934488.1:n.965_967del (FAM20A)
XR_934489.1:n.941-620_941-618del (FAM20A)
XR_934490.1:n.941-620_941-618del (FAM20A)
XM_006721959.3:c.423_425del (FAM20A)	XP_006722022.1:p.Pro142del
XM_011524918.3:c.837_839del (FAM20A)	XP_011523220.1:p.Pro280del
XM_017024781.2:c.837_839del (FAM20A)	XP_016880270.1:p.Pro280del
XR_001752543.2:n.908_910del (FAM20A)
XR_001752544.2:n.908_910del (FAM20A)
XR_002958041.1:n.908_910del (FAM20A)
XR_429905.2:n.904_906del (FAM20A)
XR_934487.3:n.908_910del (FAM20A)
NM_017565.4:c.837_839del (FAM20A) MANE Select	NP_060035.2:p.Pro280del
NM_001243746.2:c.423_425del (FAM20A)	NP_001230675.1:p.Pro142del
NR_027751.2:n.527_529del (FAM20A)