Canonical Allele Identifier: CA2662880181

Gene: PIKFYVE

Linked Data

• gnomAD v4: 2-208326202-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326203_208326204del , CM000664.2:g.208326203_208326204del	GRCh38
NC_000002.11:g.209190927_209190928del , CM000664.1:g.209190927_209190928del	GRCh37
NC_000002.10:g.208899172_208899173del	NCBI36
NG_021188.1:g.64937_64938del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3392_3393del MANE Select	ENSP00000264380.4:p.His1131ArgfsTer6
ENST00000264380.8:c.3392_3393del	ENSP00000264380.4:p.His1131ArgfsTer6
ENST00000452564.1:c.3224_3225del	ENSP00000405736.1:p.His1075ArgfsTer6
NM_015040.3:c.3392_3393del	NP_055855.2:p.His1131ArgfsTer6
XM_011510778.1:c.3428_3429del	XP_011509080.1:p.His1143ArgfsTer6
XM_011510779.1:c.3428_3429del	XP_011509081.1:p.His1143ArgfsTer6
XM_011510780.1:c.3425_3426del	XP_011509082.1:p.His1142ArgfsTer6
XM_011510781.1:c.3410_3411del	XP_011509083.1:p.His1137ArgfsTer6
XM_011510782.1:c.3428_3429del	XP_011509084.1:p.His1143ArgfsTer6
XM_011510783.1:c.3260_3261del	XP_011509085.1:p.His1087ArgfsTer6
XM_011510784.1:c.3257_3258del	XP_011509086.1:p.His1086ArgfsTer6
XM_011510785.1:c.3242_3243del	XP_011509087.1:p.His1081ArgfsTer6
XM_011510786.1:c.3137_3138del	XP_011509088.1:p.His1046ArgfsTer6
XM_011510787.1:c.3134_3135del	XP_011509089.1:p.His1045ArgfsTer6
XM_011510788.1:c.3101_3102del	XP_011509090.1:p.His1034ArgfsTer6
XM_011510789.1:c.2951_2952del	XP_011509091.1:p.His984ArgfsTer6
XM_011510790.1:c.2435_2436del	XP_011509092.1:p.His812ArgfsTer6
XM_011510791.1:c.2435_2436del	XP_011509093.1:p.His812ArgfsTer6
XM_011510792.1:c.3428_3429del	XP_011509094.1:p.His1143ArgfsTer6
XR_922888.1:n.3565_3566del
XM_011510778.3:c.3428_3429del	XP_011509080.1:p.His1143ArgfsTer6
XM_011510779.2:c.3428_3429del	XP_011509081.1:p.His1143ArgfsTer6
XM_011510780.2:c.3425_3426del	XP_011509082.1:p.His1142ArgfsTer6
XM_011510781.3:c.3410_3411del	XP_011509083.1:p.His1137ArgfsTer6
XM_011510782.3:c.3428_3429del	XP_011509084.1:p.His1143ArgfsTer6
XM_011510783.3:c.3260_3261del	XP_011509085.1:p.His1087ArgfsTer6
XM_011510784.2:c.3257_3258del	XP_011509086.1:p.His1086ArgfsTer6
XM_011510785.3:c.3242_3243del	XP_011509087.1:p.His1081ArgfsTer6
XM_011510786.3:c.3137_3138del	XP_011509088.1:p.His1046ArgfsTer6
XM_011510789.2:c.2951_2952del	XP_011509091.1:p.His984ArgfsTer6
XM_011510792.3:c.3428_3429del	XP_011509094.1:p.His1143ArgfsTer6
XM_017003568.1:c.3374_3375del	XP_016859057.1:p.His1125ArgfsTer6
XM_017003569.1:c.3206_3207del	XP_016859058.1:p.His1069ArgfsTer6
XM_017003570.1:c.2933_2934del	XP_016859059.1:p.His978ArgfsTer6
XM_017003571.1:c.2783_2784del	XP_016859060.1:p.His928ArgfsTer6
XM_017003572.1:c.2435_2436del	XP_016859061.1:p.His812ArgfsTer6
XM_017003573.1:c.2435_2436del	XP_016859062.1:p.His812ArgfsTer6
XM_017003574.1:c.2435_2436del	XP_016859063.1:p.His812ArgfsTer6
NM_015040.4:c.3392_3393del MANE Select	NP_055855.2:p.His1131ArgfsTer6