Canonical Allele Identifier: CA2080056

Gene: PIKFYVE

Linked Data

• dbSNP Id: rs763872838
• ExAC: 2:209191072 T / TCCC
• MyVariant Identifiers: chr2:g.209191072_209191073insCCC (hg19) ; chr2:g.208326348_208326349insCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326348_208326349insCCC , CM000664.2:g.208326348_208326349insCCC	GRCh38
NC_000002.11:g.209191072_209191073insCCC , CM000664.1:g.209191072_209191073insCCC	GRCh37
NC_000002.10:g.208899317_208899318insCCC	NCBI36
NG_021188.1:g.65082_65083insCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3537_3538insCCC MANE Select	ENSP00000264380.4:p.Thr1179_Ser1180insPro
ENST00000264380.8:c.3537_3538insCCC	ENSP00000264380.4:p.Thr1179_Ser1180insPro
ENST00000452564.1:c.3369_3370insCCC	ENSP00000405736.1:p.Thr1123_Ser1124insPro
NM_015040.3:c.3537_3538insCCC	NP_055855.2:p.Thr1179_Ser1180insPro
XM_011510778.1:c.3573_3574insCCC	XP_011509080.1:p.Thr1191_Ser1192insPro
XM_011510779.1:c.3573_3574insCCC	XP_011509081.1:p.Thr1191_Ser1192insPro
XM_011510780.1:c.3570_3571insCCC	XP_011509082.1:p.Thr1190_Ser1191insPro
XM_011510781.1:c.3555_3556insCCC	XP_011509083.1:p.Thr1185_Ser1186insPro
XM_011510782.1:c.3573_3574insCCC	XP_011509084.1:p.Thr1191_Ser1192insPro
XM_011510783.1:c.3405_3406insCCC	XP_011509085.1:p.Thr1135_Ser1136insPro
XM_011510784.1:c.3402_3403insCCC	XP_011509086.1:p.Thr1134_Ser1135insPro
XM_011510785.1:c.3387_3388insCCC	XP_011509087.1:p.Thr1129_Ser1130insPro
XM_011510786.1:c.3282_3283insCCC	XP_011509088.1:p.Thr1094_Ser1095insPro
XM_011510787.1:c.3279_3280insCCC	XP_011509089.1:p.Thr1093_Ser1094insPro
XM_011510788.1:c.3246_3247insCCC	XP_011509090.1:p.Thr1082_Ser1083insPro
XM_011510789.1:c.3096_3097insCCC	XP_011509091.1:p.Thr1032_Ser1033insPro
XM_011510790.1:c.2580_2581insCCC	XP_011509092.1:p.Thr860_Ser861insPro
XM_011510791.1:c.2580_2581insCCC	XP_011509093.1:p.Thr860_Ser861insPro
XM_011510792.1:c.3573_3574insCCC	XP_011509094.1:p.Thr1191_Ser1192insPro
XR_922888.1:n.3710_3711insCCC
XM_011510778.3:c.3573_3574insCCC	XP_011509080.1:p.Thr1191_Ser1192insPro
XM_011510779.2:c.3573_3574insCCC	XP_011509081.1:p.Thr1191_Ser1192insPro
XM_011510780.2:c.3570_3571insCCC	XP_011509082.1:p.Thr1190_Ser1191insPro
XM_011510781.3:c.3555_3556insCCC	XP_011509083.1:p.Thr1185_Ser1186insPro
XM_011510782.3:c.3573_3574insCCC	XP_011509084.1:p.Thr1191_Ser1192insPro
XM_011510783.3:c.3405_3406insCCC	XP_011509085.1:p.Thr1135_Ser1136insPro
XM_011510784.2:c.3402_3403insCCC	XP_011509086.1:p.Thr1134_Ser1135insPro
XM_011510785.3:c.3387_3388insCCC	XP_011509087.1:p.Thr1129_Ser1130insPro
XM_011510786.3:c.3282_3283insCCC	XP_011509088.1:p.Thr1094_Ser1095insPro
XM_011510789.2:c.3096_3097insCCC	XP_011509091.1:p.Thr1032_Ser1033insPro
XM_011510792.3:c.3573_3574insCCC	XP_011509094.1:p.Thr1191_Ser1192insPro
XM_017003568.1:c.3519_3520insCCC	XP_016859057.1:p.Thr1173_Ser1174insPro
XM_017003569.1:c.3351_3352insCCC	XP_016859058.1:p.Thr1117_Ser1118insPro
XM_017003570.1:c.3078_3079insCCC	XP_016859059.1:p.Thr1026_Ser1027insPro
XM_017003571.1:c.2928_2929insCCC	XP_016859060.1:p.Thr976_Ser977insPro
XM_017003572.1:c.2580_2581insCCC	XP_016859061.1:p.Thr860_Ser861insPro
XM_017003573.1:c.2580_2581insCCC	XP_016859062.1:p.Thr860_Ser861insPro
XM_017003574.1:c.2580_2581insCCC	XP_016859063.1:p.Thr860_Ser861insPro
NM_015040.4:c.3537_3538insCCC MANE Select	NP_055855.2:p.Thr1179_Ser1180insPro