Canonical Allele Identifier: CA2577226691

Gene: PIKFYVE

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326246_208326247insTGG , CM000664.2:g.208326246_208326247insTGG	GRCh38
NC_000002.11:g.209190970_209190971insTGG , CM000664.1:g.209190970_209190971insTGG	GRCh37
NC_000002.10:g.208899215_208899216insTGG	NCBI36
NG_021188.1:g.64980_64981insTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3435_3436insTGG MANE Select	ENSP00000264380.4:p.Ser1145_Gln1146insTrp
ENST00000264380.8:c.3435_3436insTGG	ENSP00000264380.4:p.Ser1145_Gln1146insTrp
ENST00000452564.1:c.3267_3268insTGG	ENSP00000405736.1:p.Ser1089_Gln1090insTrp
NM_015040.3:c.3435_3436insTGG	NP_055855.2:p.Ser1145_Gln1146insTrp
XM_011510778.1:c.3471_3472insTGG	XP_011509080.1:p.Ser1157_Gln1158insTrp
XM_011510779.1:c.3471_3472insTGG	XP_011509081.1:p.Ser1157_Gln1158insTrp
XM_011510780.1:c.3468_3469insTGG	XP_011509082.1:p.Ser1156_Gln1157insTrp
XM_011510781.1:c.3453_3454insTGG	XP_011509083.1:p.Ser1151_Gln1152insTrp
XM_011510782.1:c.3471_3472insTGG	XP_011509084.1:p.Ser1157_Gln1158insTrp
XM_011510783.1:c.3303_3304insTGG	XP_011509085.1:p.Ser1101_Gln1102insTrp
XM_011510784.1:c.3300_3301insTGG	XP_011509086.1:p.Ser1100_Gln1101insTrp
XM_011510785.1:c.3285_3286insTGG	XP_011509087.1:p.Ser1095_Gln1096insTrp
XM_011510786.1:c.3180_3181insTGG	XP_011509088.1:p.Ser1060_Gln1061insTrp
XM_011510787.1:c.3177_3178insTGG	XP_011509089.1:p.Ser1059_Gln1060insTrp
XM_011510788.1:c.3144_3145insTGG	XP_011509090.1:p.Ser1048_Gln1049insTrp
XM_011510789.1:c.2994_2995insTGG	XP_011509091.1:p.Ser998_Gln999insTrp
XM_011510790.1:c.2478_2479insTGG	XP_011509092.1:p.Ser826_Gln827insTrp
XM_011510791.1:c.2478_2479insTGG	XP_011509093.1:p.Ser826_Gln827insTrp
XM_011510792.1:c.3471_3472insTGG	XP_011509094.1:p.Ser1157_Gln1158insTrp
XR_922888.1:n.3608_3609insTGG
XM_011510778.3:c.3471_3472insTGG	XP_011509080.1:p.Ser1157_Gln1158insTrp
XM_011510779.2:c.3471_3472insTGG	XP_011509081.1:p.Ser1157_Gln1158insTrp
XM_011510780.2:c.3468_3469insTGG	XP_011509082.1:p.Ser1156_Gln1157insTrp
XM_011510781.3:c.3453_3454insTGG	XP_011509083.1:p.Ser1151_Gln1152insTrp
XM_011510782.3:c.3471_3472insTGG	XP_011509084.1:p.Ser1157_Gln1158insTrp
XM_011510783.3:c.3303_3304insTGG	XP_011509085.1:p.Ser1101_Gln1102insTrp
XM_011510784.2:c.3300_3301insTGG	XP_011509086.1:p.Ser1100_Gln1101insTrp
XM_011510785.3:c.3285_3286insTGG	XP_011509087.1:p.Ser1095_Gln1096insTrp
XM_011510786.3:c.3180_3181insTGG	XP_011509088.1:p.Ser1060_Gln1061insTrp
XM_011510789.2:c.2994_2995insTGG	XP_011509091.1:p.Ser998_Gln999insTrp
XM_011510792.3:c.3471_3472insTGG	XP_011509094.1:p.Ser1157_Gln1158insTrp
XM_017003568.1:c.3417_3418insTGG	XP_016859057.1:p.Ser1139_Gln1140insTrp
XM_017003569.1:c.3249_3250insTGG	XP_016859058.1:p.Ser1083_Gln1084insTrp
XM_017003570.1:c.2976_2977insTGG	XP_016859059.1:p.Ser992_Gln993insTrp
XM_017003571.1:c.2826_2827insTGG	XP_016859060.1:p.Ser942_Gln943insTrp
XM_017003572.1:c.2478_2479insTGG	XP_016859061.1:p.Ser826_Gln827insTrp
XM_017003573.1:c.2478_2479insTGG	XP_016859062.1:p.Ser826_Gln827insTrp
XM_017003574.1:c.2478_2479insTGG	XP_016859063.1:p.Ser826_Gln827insTrp
NM_015040.4:c.3435_3436insTGG MANE Select	NP_055855.2:p.Ser1145_Gln1146insTrp