Canonical Allele Identifier: CA2577226689

Gene: PIKFYVE

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326233_208326236dup , CM000664.2:g.208326233_208326236dup	GRCh38
NC_000002.11:g.209190957_209190960dup , CM000664.1:g.209190957_209190960dup	GRCh37
NC_000002.10:g.208899202_208899205dup	NCBI36
NG_021188.1:g.64967_64970dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3422_3425dup MANE Select	ENSP00000264380.4:p.Gly1143SerfsTer4
ENST00000264380.8:c.3422_3425dup	ENSP00000264380.4:p.Gly1143SerfsTer4
ENST00000452564.1:c.3254_3257dup	ENSP00000405736.1:p.Gly1087SerfsTer4
NM_015040.3:c.3422_3425dup	NP_055855.2:p.Gly1143SerfsTer4
XM_011510778.1:c.3458_3461dup	XP_011509080.1:p.Gly1155SerfsTer4
XM_011510779.1:c.3458_3461dup	XP_011509081.1:p.Gly1155SerfsTer4
XM_011510780.1:c.3455_3458dup	XP_011509082.1:p.Gly1154SerfsTer4
XM_011510781.1:c.3440_3443dup	XP_011509083.1:p.Gly1149SerfsTer4
XM_011510782.1:c.3458_3461dup	XP_011509084.1:p.Gly1155SerfsTer4
XM_011510783.1:c.3290_3293dup	XP_011509085.1:p.Gly1099SerfsTer4
XM_011510784.1:c.3287_3290dup	XP_011509086.1:p.Gly1098SerfsTer4
XM_011510785.1:c.3272_3275dup	XP_011509087.1:p.Gly1093SerfsTer4
XM_011510786.1:c.3167_3170dup	XP_011509088.1:p.Gly1058SerfsTer4
XM_011510787.1:c.3164_3167dup	XP_011509089.1:p.Gly1057SerfsTer4
XM_011510788.1:c.3131_3134dup	XP_011509090.1:p.Gly1046SerfsTer4
XM_011510789.1:c.2981_2984dup	XP_011509091.1:p.Gly996SerfsTer4
XM_011510790.1:c.2465_2468dup	XP_011509092.1:p.Gly824SerfsTer4
XM_011510791.1:c.2465_2468dup	XP_011509093.1:p.Gly824SerfsTer4
XM_011510792.1:c.3458_3461dup	XP_011509094.1:p.Gly1155SerfsTer4
XR_922888.1:n.3595_3598dup
XM_011510778.3:c.3458_3461dup	XP_011509080.1:p.Gly1155SerfsTer4
XM_011510779.2:c.3458_3461dup	XP_011509081.1:p.Gly1155SerfsTer4
XM_011510780.2:c.3455_3458dup	XP_011509082.1:p.Gly1154SerfsTer4
XM_011510781.3:c.3440_3443dup	XP_011509083.1:p.Gly1149SerfsTer4
XM_011510782.3:c.3458_3461dup	XP_011509084.1:p.Gly1155SerfsTer4
XM_011510783.3:c.3290_3293dup	XP_011509085.1:p.Gly1099SerfsTer4
XM_011510784.2:c.3287_3290dup	XP_011509086.1:p.Gly1098SerfsTer4
XM_011510785.3:c.3272_3275dup	XP_011509087.1:p.Gly1093SerfsTer4
XM_011510786.3:c.3167_3170dup	XP_011509088.1:p.Gly1058SerfsTer4
XM_011510789.2:c.2981_2984dup	XP_011509091.1:p.Gly996SerfsTer4
XM_011510792.3:c.3458_3461dup	XP_011509094.1:p.Gly1155SerfsTer4
XM_017003568.1:c.3404_3407dup	XP_016859057.1:p.Gly1137SerfsTer4
XM_017003569.1:c.3236_3239dup	XP_016859058.1:p.Gly1081SerfsTer4
XM_017003570.1:c.2963_2966dup	XP_016859059.1:p.Gly990SerfsTer4
XM_017003571.1:c.2813_2816dup	XP_016859060.1:p.Gly940SerfsTer4
XM_017003572.1:c.2465_2468dup	XP_016859061.1:p.Gly824SerfsTer4
XM_017003573.1:c.2465_2468dup	XP_016859062.1:p.Gly824SerfsTer4
XM_017003574.1:c.2465_2468dup	XP_016859063.1:p.Gly824SerfsTer4
NM_015040.4:c.3422_3425dup MANE Select	NP_055855.2:p.Gly1143SerfsTer4