Canonical Allele Identifier: CA1324023436

Gene: PIKFYVE

Linked Data

• dbSNP Id: rs1696908915

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326251_208326252insAGATCC , CM000664.2:g.208326251_208326252insAGATCC	GRCh38
NC_000002.11:g.209190975_209190976insAGATCC , CM000664.1:g.209190975_209190976insAGATCC	GRCh37
NC_000002.10:g.208899220_208899221insAGATCC	NCBI36
NG_021188.1:g.64985_64986insAGATCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3440_3441insAGATCC MANE Select	ENSP00000264380.4:p.Ser1147delinsArgAspPro
ENST00000264380.8:c.3440_3441insAGATCC	ENSP00000264380.4:p.Ser1147delinsArgAspPro
ENST00000452564.1:c.3272_3273insAGATCC	ENSP00000405736.1:p.Ser1091delinsArgAspPro
NM_015040.3:c.3440_3441insAGATCC	NP_055855.2:p.Ser1147delinsArgAspPro
XM_011510778.1:c.3476_3477insAGATCC	XP_011509080.1:p.Ser1159delinsArgAspPro
XM_011510779.1:c.3476_3477insAGATCC	XP_011509081.1:p.Ser1159delinsArgAspPro
XM_011510780.1:c.3473_3474insAGATCC	XP_011509082.1:p.Ser1158delinsArgAspPro
XM_011510781.1:c.3458_3459insAGATCC	XP_011509083.1:p.Ser1153delinsArgAspPro
XM_011510782.1:c.3476_3477insAGATCC	XP_011509084.1:p.Ser1159delinsArgAspPro
XM_011510783.1:c.3308_3309insAGATCC	XP_011509085.1:p.Ser1103delinsArgAspPro
XM_011510784.1:c.3305_3306insAGATCC	XP_011509086.1:p.Ser1102delinsArgAspPro
XM_011510785.1:c.3290_3291insAGATCC	XP_011509087.1:p.Ser1097delinsArgAspPro
XM_011510786.1:c.3185_3186insAGATCC	XP_011509088.1:p.Ser1062delinsArgAspPro
XM_011510787.1:c.3182_3183insAGATCC	XP_011509089.1:p.Ser1061delinsArgAspPro
XM_011510788.1:c.3149_3150insAGATCC	XP_011509090.1:p.Ser1050delinsArgAspPro
XM_011510789.1:c.2999_3000insAGATCC	XP_011509091.1:p.Ser1000delinsArgAspPro
XM_011510790.1:c.2483_2484insAGATCC	XP_011509092.1:p.Ser828delinsArgAspPro
XM_011510791.1:c.2483_2484insAGATCC	XP_011509093.1:p.Ser828delinsArgAspPro
XM_011510792.1:c.3476_3477insAGATCC	XP_011509094.1:p.Ser1159delinsArgAspPro
XR_922888.1:n.3613_3614insAGATCC
XM_011510778.3:c.3476_3477insAGATCC	XP_011509080.1:p.Ser1159delinsArgAspPro
XM_011510779.2:c.3476_3477insAGATCC	XP_011509081.1:p.Ser1159delinsArgAspPro
XM_011510780.2:c.3473_3474insAGATCC	XP_011509082.1:p.Ser1158delinsArgAspPro
XM_011510781.3:c.3458_3459insAGATCC	XP_011509083.1:p.Ser1153delinsArgAspPro
XM_011510782.3:c.3476_3477insAGATCC	XP_011509084.1:p.Ser1159delinsArgAspPro
XM_011510783.3:c.3308_3309insAGATCC	XP_011509085.1:p.Ser1103delinsArgAspPro
XM_011510784.2:c.3305_3306insAGATCC	XP_011509086.1:p.Ser1102delinsArgAspPro
XM_011510785.3:c.3290_3291insAGATCC	XP_011509087.1:p.Ser1097delinsArgAspPro
XM_011510786.3:c.3185_3186insAGATCC	XP_011509088.1:p.Ser1062delinsArgAspPro
XM_011510789.2:c.2999_3000insAGATCC	XP_011509091.1:p.Ser1000delinsArgAspPro
XM_011510792.3:c.3476_3477insAGATCC	XP_011509094.1:p.Ser1159delinsArgAspPro
XM_017003568.1:c.3422_3423insAGATCC	XP_016859057.1:p.Ser1141delinsArgAspPro
XM_017003569.1:c.3254_3255insAGATCC	XP_016859058.1:p.Ser1085delinsArgAspPro
XM_017003570.1:c.2981_2982insAGATCC	XP_016859059.1:p.Ser994delinsArgAspPro
XM_017003571.1:c.2831_2832insAGATCC	XP_016859060.1:p.Ser944delinsArgAspPro
XM_017003572.1:c.2483_2484insAGATCC	XP_016859061.1:p.Ser828delinsArgAspPro
XM_017003573.1:c.2483_2484insAGATCC	XP_016859062.1:p.Ser828delinsArgAspPro
XM_017003574.1:c.2483_2484insAGATCC	XP_016859063.1:p.Ser828delinsArgAspPro
NM_015040.4:c.3440_3441insAGATCC MANE Select	NP_055855.2:p.Ser1147delinsArgAspPro