Canonical Allele Identifier: CA2499219358
Community Standard Title: NM_002655.3(PLAG1):c.1190_1197del (p.Asp397AlafsTer10)
Gene: PLAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.56166549_56166556del , CM000670.2:g.56166549_56166556del GRCh38
NC_000008.10:g.57079108_57079115del , CM000670.1:g.57079108_57079115del GRCh37
NC_000008.9:g.57241662_57241669del NCBI36
NG_023310.1:g.49745_49752del

Transcript Alleles

HGVS Amino-acid Change
NM_002655.3:c.1190_1197del MANE Select NP_002646.2:p.Asp397AlafsTer10
ENST00000316981.8:c.1190_1197del MANE Select ENSP00000325546.3:p.Asp397AlafsTer10
NM_001114634.1:c.1190_1197del NP_001108106.1:p.Asp397AlafsTer10
NM_001114634.2:c.1190_1197del NP_001108106.1:p.Asp397AlafsTer10
NM_001114635.1:c.944_951del NP_001108107.1:p.Asp315AlafsTer10
NM_001114635.2:c.944_951del NP_001108107.1:p.Asp315AlafsTer10
NM_002655.2:c.1190_1197del NP_002646.2:p.Asp397AlafsTer10
ENST00000316981.7:c.1190_1197del ENSP00000325546.3:p.Asp397AlafsTer10
ENST00000423799.6:c.944_951del ENSP00000404067.2:p.Asp315AlafsTer10
ENST00000429357.2:c.1190_1197del ENSP00000416537.2:p.Asp397AlafsTer10
ENST00000522009.1:n.1641_1648del
XM_005251260.2:c.1190_1197del XP_005251317.1:p.Asp397AlafsTer10
XM_011517544.1:c.944_951del XP_011515846.1:p.Asp315AlafsTer10
XM_011517544.2:c.944_951del XP_011515846.1:p.Asp315AlafsTer10
XM_017013576.1:c.1190_1197del XP_016869065.1:p.Asp397AlafsTer10
XM_017013577.1:c.944_951del XP_016869066.1:p.Asp315AlafsTer10