Canonical Allele Identifier: CA2573154761
Gene: PRKAR1A HGNC NCBI
FAM20A HGNC NCBI

Linked Data

ClinVar Variation Id: 1691825
ClinVar RCV Id: RCV002255776
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.68534268_68541798del , CM000679.2:g.68534268_68541798del GRCh38
NC_000017.10:g.66530409_66537939del , CM000679.1:g.66530409_66537939del GRCh37
NC_000017.9:g.64042004_64049534del NCBI36
NG_007093.3:g.125646_133176del , LRG_514:g.125646_133176del
NG_029809.1:g.64160_71690del

Transcript Alleles

HGVS Amino-acid Change
ENST00000588188.7:c.973+4267_974-9286del (PRKAR1A) ENSP00000468106.2:n.973+4267_974-9286del
ENST00000711037.1:c.973+4267_974-9286del (PRKAR1A) ENSP00000518555.1:n.973+4267_974-9286del
ENST00000585981.6:c.973+4267_974-9286del (PRKAR1A) ENSP00000467311.2:n.973+4267_974-9286del
ENST00000588188.6:c.973+4267_974-9286del (PRKAR1A) ENSP00000468106.2:n.973+4267_974-9286del
NM_001276290.1:c.973+4267_974-9286del (PRKAR1A) NP_001263219.1:n.973+4267_974-9286del
XM_006721959.3:c.695+190_*3212del (FAM20A)
XR_001752544.2:n.1180+190_4934del (FAM20A)
XR_002958041.1:n.1180+190_5086del (FAM20A)
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