Canonical Allele Identifier: CA2543502544
Gene: PRKG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.52268696_52268697insGAAGGTGAATCTTTAGTTCAAGAAAAGTT , CM000672.2:g.52268696_52268697insGAAGGTGAATCTTTAGTTCAAGAAAAGTT GRCh38
NC_000010.10:g.54028456_54028457insGAAGGTGAATCTTTAGTTCAAGAAAAGTT , CM000672.1:g.54028456_54028457insGAAGGTGAATCTTTAGTTCAAGAAAAGTT GRCh37
NC_000010.9:g.53698462_53698463insGAAGGTGAATCTTTAGTTCAAGAAAAGTT NCBI36
NG_029982.1:g.1282546_1282547insGAAGGTGAATCTTTAGTTCAAGAAAAGTT

Transcript Alleles

HGVS Amino-acid change
ENST00000373975.3:n.533-2654_533-2653insGAAGGTGAATCTTTAGTTCAAGAAAAGTT
ENST00000373980.11:c.1174-2654_1174-2653insGAAGGTGAATCTTTAGTTCAAGAAAAGTT MANE Select ENSP00000363092.5:n.1174-2654_1174-2653insGAAGGTGAATCTTTAGTTC...
ENST00000401604.8:c.1129-2654_1129-2653insGAAGGTGAATCTTTAGTTCAAGAAAAGTT ENSP00000384200.4:n.1129-2654_1129-2653insGAAGGTGAATCTTTAGTTC...
ENST00000672084.1:c.325-2654_325-2653insGAAGGTGAATCTTTAGTTCAAGAAAAGTT ENSP00000499822.1:n.325-2654_325-2653insGAAGGTGAATCTTTAGTTCAA...
ENST00000373975.2:n.623-2654_623-2653insGAAGGTGAATCTTTAGTTCAAGAAAAGTT
ENST00000373980.8:c.1174-2654_1174-2653insGAAGGTGAATCTTTAGTTCAAGAAAAGTT ENSP00000363092.4:n.1174-2654_1174-2653insGAAGGTGAATCTTTAGTTC...
ENST00000373985.5:c.1129-2654_1129-2653insGAAGGTGAATCTTTAGTTCAAGAAAAGTT ENSP00000363097.2:n.1129-2654_1129-2653insGAAGGTGAATCTTTAGTTC...
ENST00000401604.6:c.493-2654_493-2653insGAAGGTGAATCTTTAGTTCAAGAAAAGTT ENSP00000384200.3:n.493-2654_493-2653insGAAGGTGAATCTTTAGTTCAA...
NM_001098512.2:c.1129-2654_1129-2653insGAAGGTGAATCTTTAGTTCAAGAAAAGTT NP_001091982.1:n.1129-2654_1129-2653insGAAGGTGAATCTTTAGTTCAAG...
NM_006258.3:c.1174-2654_1174-2653insGAAGGTGAATCTTTAGTTCAAGAAAAGTT NP_006249.1:n.1174-2654_1174-2653insGAAGGTGAATCTTTAGTTCAAGAAA...
XM_005269972.3:c.325-2654_325-2653insGAAGGTGAATCTTTAGTTCAAGAAAAGTT XP_005270029.1:n.325-2654_325-2653insGAAGGTGAATCTTTAGTTCAAGAA...
NM_001098512.3:c.1129-2654_1129-2653insGAAGGTGAATCTTTAGTTCAAGAAAAGTT NP_001091982.1:n.1129-2654_1129-2653insGAAGGTGAATCTTTAGTTCAAG...
NM_006258.4:c.1174-2654_1174-2653insGAAGGTGAATCTTTAGTTCAAGAAAAGTT MANE Select NP_006249.1:n.1174-2654_1174-2653insGAAGGTGAATCTTTAGTTCAAGAAA...
XM_017016412.1:c.889-2654_889-2653insGAAGGTGAATCTTTAGTTCAAGAAAAGTT XP_016871901.1:n.889-2654_889-2653insGAAGGTGAATCTTTAGTTCAAGAA...
XM_017016413.1:c.871-2654_871-2653insGAAGGTGAATCTTTAGTTCAAGAAAAGTT XP_016871902.1:n.871-2654_871-2653insGAAGGTGAATCTTTAGTTCAAGAA...
XM_024448078.1:c.-36-2654_-36-2653insGAAGGTGAATCTTTAGTTCAAGAAAAGTT XP_024303846.1:n.-36-2654_-36-2653insGAAGGTGAATCTTTAGTTCAAGAA...
NM_001374781.1:c.-36-2654_-36-2653insGAAGGTGAATCTTTAGTTCAAGAAAAGTT NP_001361710.1:n.-36-2654_-36-2653insGAAGGTGAATCTTTAGTTCAAGAA...