Canonical Allele Identifier: CA2080035

Gene: PIKFYVE

Linked Data

• dbSNP Id: rs767057112
• ExAC: 2:209190971 CAG / C
• gnomAD v2: 2-209190971-CAG-C
• MyVariant Identifiers: chr2:g.209190972_209190973del (hg19) ; chr2:g.208326248_208326249del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326250_208326251del , CM000664.2:g.208326250_208326251del	GRCh38
NC_000002.11:g.209190974_209190975del , CM000664.1:g.209190974_209190975del	GRCh37
NC_000002.10:g.208899219_208899220del	NCBI36
NG_021188.1:g.64984_64985del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3439_3440del MANE Select	ENSP00000264380.4:p.Ser1147LeufsTer3
ENST00000264380.8:c.3439_3440del	ENSP00000264380.4:p.Ser1147LeufsTer3
ENST00000452564.1:c.3271_3272del	ENSP00000405736.1:p.Ser1091LeufsTer3
NM_015040.3:c.3439_3440del	NP_055855.2:p.Ser1147LeufsTer3
XM_011510778.1:c.3475_3476del	XP_011509080.1:p.Ser1159LeufsTer3
XM_011510779.1:c.3475_3476del	XP_011509081.1:p.Ser1159LeufsTer3
XM_011510780.1:c.3472_3473del	XP_011509082.1:p.Ser1158LeufsTer3
XM_011510781.1:c.3457_3458del	XP_011509083.1:p.Ser1153LeufsTer3
XM_011510782.1:c.3475_3476del	XP_011509084.1:p.Ser1159LeufsTer3
XM_011510783.1:c.3307_3308del	XP_011509085.1:p.Ser1103LeufsTer3
XM_011510784.1:c.3304_3305del	XP_011509086.1:p.Ser1102LeufsTer3
XM_011510785.1:c.3289_3290del	XP_011509087.1:p.Ser1097LeufsTer3
XM_011510786.1:c.3184_3185del	XP_011509088.1:p.Ser1062LeufsTer3
XM_011510787.1:c.3181_3182del	XP_011509089.1:p.Ser1061LeufsTer3
XM_011510788.1:c.3148_3149del	XP_011509090.1:p.Ser1050LeufsTer3
XM_011510789.1:c.2998_2999del	XP_011509091.1:p.Ser1000LeufsTer3
XM_011510790.1:c.2482_2483del	XP_011509092.1:p.Ser828LeufsTer3
XM_011510791.1:c.2482_2483del	XP_011509093.1:p.Ser828LeufsTer3
XM_011510792.1:c.3475_3476del	XP_011509094.1:p.Ser1159LeufsTer3
XR_922888.1:n.3612_3613del
XM_011510778.3:c.3475_3476del	XP_011509080.1:p.Ser1159LeufsTer3
XM_011510779.2:c.3475_3476del	XP_011509081.1:p.Ser1159LeufsTer3
XM_011510780.2:c.3472_3473del	XP_011509082.1:p.Ser1158LeufsTer3
XM_011510781.3:c.3457_3458del	XP_011509083.1:p.Ser1153LeufsTer3
XM_011510782.3:c.3475_3476del	XP_011509084.1:p.Ser1159LeufsTer3
XM_011510783.3:c.3307_3308del	XP_011509085.1:p.Ser1103LeufsTer3
XM_011510784.2:c.3304_3305del	XP_011509086.1:p.Ser1102LeufsTer3
XM_011510785.3:c.3289_3290del	XP_011509087.1:p.Ser1097LeufsTer3
XM_011510786.3:c.3184_3185del	XP_011509088.1:p.Ser1062LeufsTer3
XM_011510789.2:c.2998_2999del	XP_011509091.1:p.Ser1000LeufsTer3
XM_011510792.3:c.3475_3476del	XP_011509094.1:p.Ser1159LeufsTer3
XM_017003568.1:c.3421_3422del	XP_016859057.1:p.Ser1141LeufsTer3
XM_017003569.1:c.3253_3254del	XP_016859058.1:p.Ser1085LeufsTer3
XM_017003570.1:c.2980_2981del	XP_016859059.1:p.Ser994LeufsTer3
XM_017003571.1:c.2830_2831del	XP_016859060.1:p.Ser944LeufsTer3
XM_017003572.1:c.2482_2483del	XP_016859061.1:p.Ser828LeufsTer3
XM_017003573.1:c.2482_2483del	XP_016859062.1:p.Ser828LeufsTer3
XM_017003574.1:c.2482_2483del	XP_016859063.1:p.Ser828LeufsTer3
NM_015040.4:c.3439_3440del MANE Select	NP_055855.2:p.Ser1147LeufsTer3