Canonical Allele Identifier: CA2830535147

Gene: PLRG1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.154540836_154540837insCCCATATCTGTTCTCTTGTGGAGAAGACAAACAAGTG , CM000666.2:g.154540836_154540837insCCCATATCTGTTCTCTTGTGGAGAAGACAAACAAGTG	GRCh38
NC_000004.11:g.155461988_155461989insCCCATATCTGTTCTCTTGTGGAGAAGACAAACAAGTG , CM000666.1:g.155461988_155461989insCCCATATCTGTTCTCTTGTGGAGAAGACAAACAAGTG	GRCh37
NC_000004.10:g.155681438_155681439insCCCATATCTGTTCTCTTGTGGAGAAGACAAACAAGTG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000499023.7:c.786_787insACTTGTTTGTCTTCTCCACAAGAGAACAGATATGGGC MANE Select	ENSP00000424417.1:p.Ser263ThrfsTer29
ENST00000302078.9:c.759_760insACTTGTTTGTCTTCTCCACAAGAGAACAGATATGGGC	ENSP00000303191.5:p.Ser254ThrfsTer29
ENST00000499023.6:c.786_787insACTTGTTTGTCTTCTCCACAAGAGAACAGATATGGGC	ENSP00000424417.1:p.Ser263ThrfsTer29
ENST00000506192.5:c.*299_*300insACTTGTTTGTCTTCTCCACAAGAGAACAGATATGGGC	ENSP00000424616.1:n.*299_*300insACTTGTTTGTCTTCTCCACAAGAGAACAG...
ENST00000506627.5:c.101_102insACTTGTTTGTCTTCTCCACAAGAGAACAGATATGGGC
NM_001201564.1:c.759_760insACTTGTTTGTCTTCTCCACAAGAGAACAGATATGGGC	NP_001188493.1:p.Ser254ThrfsTer29
NM_002669.3:c.786_787insACTTGTTTGTCTTCTCCACAAGAGAACAGATATGGGC	NP_002660.1:p.Ser263ThrfsTer29
NM_002669.4:c.786_787insACTTGTTTGTCTTCTCCACAAGAGAACAGATATGGGC MANE Select	NP_002660.1:p.Ser263ThrfsTer29
NM_001201564.2:c.759_760insACTTGTTTGTCTTCTCCACAAGAGAACAGATATGGGC	NP_001188493.1:p.Ser254ThrfsTer29