Canonical Allele Identifier: CA275094
Community Standard Title: NM_000440.3(PDE6A):c.2332_2335del (p.Asp778LeufsTer?)
Gene: PDE6A HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149866194_149866197del , CM000667.2:g.149866194_149866197del GRCh38
NC_000005.9:g.149245757_149245760del , CM000667.1:g.149245757_149245760del GRCh37
NC_000005.8:g.149225950_149225953del NCBI36
NG_009102.1:g.83598_83601del

Transcript Alleles

HGVS Amino-acid Change
NM_000440.3:c.2332_2335del MANE Select NP_000431.2:p.Asp778LeufsTer?
ENST00000255266.10:c.2332_2335del MANE Select ENSP00000255266.5:p.Asp778LeufsTer?
NM_000440.2:c.2332_2335del NP_000431.2:p.Asp778LeufsTer?
ENST00000255266.9:c.2332_2335del ENSP00000255266.5:p.Asp778LeufsTer?
ENST00000508173.5:n.2516_2519del
ENST00000512670.1:n.1697_1700del
ENST00000613228.1:c.2089_2092del ENSP00000478060.1:p.Asp697LeufsTer?
ENST00000617647.4:c.2089_2092del ENSP00000482774.1:p.Asp697LeufsTer?
XM_011537648.1:c.2332_2335del XP_011535950.1:p.Asp778LeufsTer?
XM_011537649.1:c.1786_1789del XP_011535951.1:p.Asp596LeufsTer?
XM_011537650.1:c.1447_1450del XP_011535952.1:p.Asp483LeufsTer?
XM_011537650.2:c.1447_1450del XP_011535952.1:p.Asp483LeufsTer?
XM_011537651.1:c.1285_1288del XP_011535953.1:p.Asp429LeufsTer?
XM_011537651.2:c.1285_1288del XP_011535953.1:p.Asp429LeufsTer?
XM_011537652.1:c.1255_1258del XP_011535954.1:p.Asp419LeufsTer?
XM_011537653.1:c.1255_1258del XP_011535955.1:p.Asp419LeufsTer?
XM_011537653.2:c.1255_1258del XP_011535955.1:p.Asp419LeufsTer?
XM_011537654.1:c.1255_1258del XP_011535956.1:p.Asp419LeufsTer?
XM_011537654.2:c.1255_1258del XP_011535956.1:p.Asp419LeufsTer?
XM_017009572.2:c.2089_2092del XP_016865061.1:p.Asp697LeufsTer?
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