Canonical Allele Identifier: CA2662880194

Gene: PIKFYVE

Linked Data

• gnomAD v4: 2-208326289-GGAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326293_208326295del , CM000664.2:g.208326293_208326295del	GRCh38
NC_000002.11:g.209191017_209191019del , CM000664.1:g.209191017_209191019del	GRCh37
NC_000002.10:g.208899262_208899264del	NCBI36
NG_021188.1:g.65027_65029del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3482_3484del MANE Select	ENSP00000264380.4:p.Arg1161del
ENST00000264380.8:c.3482_3484del	ENSP00000264380.4:p.Arg1161del
ENST00000452564.1:c.3314_3316del	ENSP00000405736.1:p.Arg1105del
NM_015040.3:c.3482_3484del	NP_055855.2:p.Arg1161del
XM_011510778.1:c.3518_3520del	XP_011509080.1:p.Arg1173del
XM_011510779.1:c.3518_3520del	XP_011509081.1:p.Arg1173del
XM_011510780.1:c.3515_3517del	XP_011509082.1:p.Arg1172del
XM_011510781.1:c.3500_3502del	XP_011509083.1:p.Arg1167del
XM_011510782.1:c.3518_3520del	XP_011509084.1:p.Arg1173del
XM_011510783.1:c.3350_3352del	XP_011509085.1:p.Arg1117del
XM_011510784.1:c.3347_3349del	XP_011509086.1:p.Arg1116del
XM_011510785.1:c.3332_3334del	XP_011509087.1:p.Arg1111del
XM_011510786.1:c.3227_3229del	XP_011509088.1:p.Arg1076del
XM_011510787.1:c.3224_3226del	XP_011509089.1:p.Arg1075del
XM_011510788.1:c.3191_3193del	XP_011509090.1:p.Arg1064del
XM_011510789.1:c.3041_3043del	XP_011509091.1:p.Arg1014del
XM_011510790.1:c.2525_2527del	XP_011509092.1:p.Arg842del
XM_011510791.1:c.2525_2527del	XP_011509093.1:p.Arg842del
XM_011510792.1:c.3518_3520del	XP_011509094.1:p.Arg1173del
XR_922888.1:n.3655_3657del
XM_011510778.3:c.3518_3520del	XP_011509080.1:p.Arg1173del
XM_011510779.2:c.3518_3520del	XP_011509081.1:p.Arg1173del
XM_011510780.2:c.3515_3517del	XP_011509082.1:p.Arg1172del
XM_011510781.3:c.3500_3502del	XP_011509083.1:p.Arg1167del
XM_011510782.3:c.3518_3520del	XP_011509084.1:p.Arg1173del
XM_011510783.3:c.3350_3352del	XP_011509085.1:p.Arg1117del
XM_011510784.2:c.3347_3349del	XP_011509086.1:p.Arg1116del
XM_011510785.3:c.3332_3334del	XP_011509087.1:p.Arg1111del
XM_011510786.3:c.3227_3229del	XP_011509088.1:p.Arg1076del
XM_011510789.2:c.3041_3043del	XP_011509091.1:p.Arg1014del
XM_011510792.3:c.3518_3520del	XP_011509094.1:p.Arg1173del
XM_017003568.1:c.3464_3466del	XP_016859057.1:p.Arg1155del
XM_017003569.1:c.3296_3298del	XP_016859058.1:p.Arg1099del
XM_017003570.1:c.3023_3025del	XP_016859059.1:p.Arg1008del
XM_017003571.1:c.2873_2875del	XP_016859060.1:p.Arg958del
XM_017003572.1:c.2525_2527del	XP_016859061.1:p.Arg842del
XM_017003573.1:c.2525_2527del	XP_016859062.1:p.Arg842del
XM_017003574.1:c.2525_2527del	XP_016859063.1:p.Arg842del
NM_015040.4:c.3482_3484del MANE Select	NP_055855.2:p.Arg1161del