Canonical Allele Identifier: CA207399444

Gene: PRKG1

Linked Data

• dbSNP Id: rs893025551
• gnomAD v2: 10-54028448-CA-C
• gnomAD v3: 10-52268688-CA-C
• gnomAD v4: 10-52268688-CA-C
• MyVariant Identifiers: chr10:g.54028449del (hg19) ; chr10:g.52268689del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52268697del , CM000672.2:g.52268697del	GRCh38
NC_000010.10:g.54028457del , CM000672.1:g.54028457del	GRCh37
NC_000010.9:g.53698463del	NCBI36
NG_029982.1:g.1282547del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373975.3:n.533-2653del
ENST00000373980.11:c.1174-2653del MANE Select	ENSP00000363092.5:n.1174-2653del
ENST00000401604.8:c.1129-2653del	ENSP00000384200.4:n.1129-2653del
ENST00000672084.1:c.325-2653del	ENSP00000499822.1:n.325-2653del
ENST00000373975.2:n.623-2653del
ENST00000373980.8:c.1174-2653del	ENSP00000363092.4:n.1174-2653del
ENST00000373985.5:c.1129-2653del	ENSP00000363097.2:n.1129-2653del
ENST00000401604.6:c.493-2653del	ENSP00000384200.3:n.493-2653del
NM_001098512.2:c.1129-2653del	NP_001091982.1:n.1129-2653del
NM_006258.3:c.1174-2653del	NP_006249.1:n.1174-2653del
XM_005269972.3:c.325-2653del	XP_005270029.1:n.325-2653del
NM_001098512.3:c.1129-2653del	NP_001091982.1:n.1129-2653del
NM_006258.4:c.1174-2653del MANE Select	NP_006249.1:n.1174-2653del
XM_017016412.1:c.889-2653del	XP_016871901.1:n.889-2653del
XM_017016413.1:c.871-2653del	XP_016871902.1:n.871-2653del
XM_024448078.1:c.-36-2653del	XP_024303846.1:n.-36-2653del
NM_001374781.1:c.-36-2653del	NP_001361710.1:n.-36-2653del