Canonical Allele Identifier: CA2639518639

Gene: PRKAR1A FAM20A

Linked Data

• gnomAD v4: 17-68540892-CCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.68540894_68540895del , CM000679.2:g.68540894_68540895del	GRCh38
NC_000017.10:g.66537035_66537036del , CM000679.1:g.66537035_66537036del	GRCh37
NC_000017.9:g.64048630_64048631del	NCBI36
NG_007093.3:g.132272_132273del , LRG_514:g.132272_132273del
NG_029809.1:g.65061_65062del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588188.7:c.974-10190_974-10189del (PRKAR1A)	ENSP00000468106.2:n.974-10190_974-10189del
ENST00000711037.1:c.974-10190_974-10189del (PRKAR1A)	ENSP00000518555.1:n.974-10190_974-10189del
ENST00000585981.6:c.974-10190_974-10189del (PRKAR1A)	ENSP00000467311.2:n.974-10190_974-10189del
ENST00000592554.2:c.1174_1175del (FAM20A) MANE Select	ENSP00000468308.1:p.Arg392AlafsTer23
ENST00000226094.9:n.852_853del (FAM20A)
ENST00000375556.8:n.1098_1099del (FAM20A)
ENST00000588188.6:c.974-10190_974-10189del (PRKAR1A)	ENSP00000468106.2:n.974-10190_974-10189del
ENST00000590074.5:c.1330_1331del (FAM20A)
ENST00000590873.5:c.42-928_42-927del (FAM20A)	ENSP00000467884.1:n.42-928_42-927del
ENST00000592554.1:c.1174_1175del (FAM20A)	ENSP00000468308.1:p.Arg392AlafsTer23
NM_001243746.1:c.760_761del (FAM20A)	NP_001230675.1:p.Arg254AlafsTer23
NM_001276290.1:c.974-10190_974-10189del (PRKAR1A)	NP_001263219.1:n.974-10190_974-10189del
NM_017565.3:c.1174_1175del (FAM20A)	NP_060035.2:p.Arg392AlafsTer23
NR_027751.1:n.889_890del (FAM20A)
XM_006721959.2:c.760_761del (FAM20A)	XP_006722022.1:p.Arg254AlafsTer23
XM_006721960.2:c.*38_*39del (FAM20A)	XP_006722023.1:n.*38_*39del
XM_011524917.1:c.1054_1055del (FAM20A)	XP_011523219.1:p.Arg352AlafsTer23
XM_011524921.1:c.*38_*39del (FAM20A)	XP_011523223.1:n.*38_*39del
XR_934486.1:n.1302_1303del (FAM20A)
XR_934487.1:n.1302_1303del (FAM20A)
XR_934488.1:n.1612_1613del (FAM20A)
XR_934489.1:n.1211_1212del (FAM20A)
XR_934490.1:n.1211_1212del (FAM20A)
XM_006721959.3:c.760_761del (FAM20A)	XP_006722022.1:p.Arg254AlafsTer23
XM_011524918.3:c.*663_*664del (FAM20A)	XP_011523220.1:n.*663_*664del
XM_017024781.2:c.*541_*542del (FAM20A)	XP_016880270.1:n.*541_*542del
XR_001752543.2:n.1487_1488del (FAM20A)
XR_001752544.2:n.1270_1271del (FAM20A)
XR_002958041.1:n.1245_1246del (FAM20A)
XR_934487.3:n.1245_1246del (FAM20A)
NM_017565.4:c.1174_1175del (FAM20A) MANE Select	NP_060035.2:p.Arg392AlafsTer23
NM_001243746.2:c.760_761del (FAM20A)	NP_001230675.1:p.Arg254AlafsTer23
NR_027751.2:n.889_890del (FAM20A)