Canonical Allele Identifier: CA2080034

Gene: PIKFYVE

Linked Data

• dbSNP Id: rs759119341
• ExAC: 2:209190969 G / GCTGGC
• gnomAD v2: 2-209190969-G-GCTGGC
• MyVariant Identifiers: chr2:g.209190969_209190970insCTGGC (hg19) ; chr2:g.208326245_208326246insCTGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326246_208326247insTGGCC , CM000664.2:g.208326246_208326247insTGGCC	GRCh38
NC_000002.11:g.209190970_209190971insTGGCC , CM000664.1:g.209190970_209190971insTGGCC	GRCh37
NC_000002.10:g.208899215_208899216insTGGCC	NCBI36
NG_021188.1:g.64980_64981insTGGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3435_3436insTGGCC MANE Select	ENSP00000264380.4:p.Gln1146TrpfsTer?
ENST00000264380.8:c.3435_3436insTGGCC	ENSP00000264380.4:p.Gln1146TrpfsTer?
ENST00000452564.1:c.3267_3268insTGGCC	ENSP00000405736.1:p.Gln1090TrpfsTer?
NM_015040.3:c.3435_3436insTGGCC	NP_055855.2:p.Gln1146TrpfsTer?
XM_011510778.1:c.3471_3472insTGGCC	XP_011509080.1:p.Gln1158TrpfsTer?
XM_011510779.1:c.3471_3472insTGGCC	XP_011509081.1:p.Gln1158TrpfsTer?
XM_011510780.1:c.3468_3469insTGGCC	XP_011509082.1:p.Gln1157TrpfsTer?
XM_011510781.1:c.3453_3454insTGGCC	XP_011509083.1:p.Gln1152TrpfsTer?
XM_011510782.1:c.3471_3472insTGGCC	XP_011509084.1:p.Gln1158TrpfsTer?
XM_011510783.1:c.3303_3304insTGGCC	XP_011509085.1:p.Gln1102TrpfsTer?
XM_011510784.1:c.3300_3301insTGGCC	XP_011509086.1:p.Gln1101TrpfsTer?
XM_011510785.1:c.3285_3286insTGGCC	XP_011509087.1:p.Gln1096TrpfsTer?
XM_011510786.1:c.3180_3181insTGGCC	XP_011509088.1:p.Gln1061TrpfsTer?
XM_011510787.1:c.3177_3178insTGGCC	XP_011509089.1:p.Gln1060TrpfsTer?
XM_011510788.1:c.3144_3145insTGGCC	XP_011509090.1:p.Gln1049TrpfsTer?
XM_011510789.1:c.2994_2995insTGGCC	XP_011509091.1:p.Gln999TrpfsTer?
XM_011510790.1:c.2478_2479insTGGCC	XP_011509092.1:p.Gln827TrpfsTer?
XM_011510791.1:c.2478_2479insTGGCC	XP_011509093.1:p.Gln827TrpfsTer?
XM_011510792.1:c.3471_3472insTGGCC	XP_011509094.1:p.Gln1158TrpfsTer?
XR_922888.1:n.3608_3609insTGGCC
XM_011510778.3:c.3471_3472insTGGCC	XP_011509080.1:p.Gln1158TrpfsTer?
XM_011510779.2:c.3471_3472insTGGCC	XP_011509081.1:p.Gln1158TrpfsTer?
XM_011510780.2:c.3468_3469insTGGCC	XP_011509082.1:p.Gln1157TrpfsTer?
XM_011510781.3:c.3453_3454insTGGCC	XP_011509083.1:p.Gln1152TrpfsTer?
XM_011510782.3:c.3471_3472insTGGCC	XP_011509084.1:p.Gln1158TrpfsTer?
XM_011510783.3:c.3303_3304insTGGCC	XP_011509085.1:p.Gln1102TrpfsTer?
XM_011510784.2:c.3300_3301insTGGCC	XP_011509086.1:p.Gln1101TrpfsTer?
XM_011510785.3:c.3285_3286insTGGCC	XP_011509087.1:p.Gln1096TrpfsTer?
XM_011510786.3:c.3180_3181insTGGCC	XP_011509088.1:p.Gln1061TrpfsTer?
XM_011510789.2:c.2994_2995insTGGCC	XP_011509091.1:p.Gln999TrpfsTer?
XM_011510792.3:c.3471_3472insTGGCC	XP_011509094.1:p.Gln1158TrpfsTer?
XM_017003568.1:c.3417_3418insTGGCC	XP_016859057.1:p.Gln1140TrpfsTer?
XM_017003569.1:c.3249_3250insTGGCC	XP_016859058.1:p.Gln1084TrpfsTer?
XM_017003570.1:c.2976_2977insTGGCC	XP_016859059.1:p.Gln993TrpfsTer?
XM_017003571.1:c.2826_2827insTGGCC	XP_016859060.1:p.Gln943TrpfsTer?
XM_017003572.1:c.2478_2479insTGGCC	XP_016859061.1:p.Gln827TrpfsTer?
XM_017003573.1:c.2478_2479insTGGCC	XP_016859062.1:p.Gln827TrpfsTer?
XM_017003574.1:c.2478_2479insTGGCC	XP_016859063.1:p.Gln827TrpfsTer?
NM_015040.4:c.3435_3436insTGGCC MANE Select	NP_055855.2:p.Gln1146TrpfsTer?