Canonical Allele Identifier: CA2080037

Gene: PIKFYVE

Linked Data

• dbSNP Id: rs752327158
• ExAC: 2:209190976 CT / C
• gnomAD v2: 2-209190976-CT-C
• MyVariant Identifiers: chr2:g.209190977del (hg19) ; chr2:g.208326253del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326254del , CM000664.2:g.208326254del	GRCh38
NC_000002.11:g.209190978del , CM000664.1:g.209190978del	GRCh37
NC_000002.10:g.208899223del	NCBI36
NG_021188.1:g.64988del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3443del MANE Select	ENSP00000264380.4:p.Leu1148TrpfsTer?
ENST00000264380.8:c.3443del	ENSP00000264380.4:p.Leu1148TrpfsTer?
ENST00000452564.1:c.3275del	ENSP00000405736.1:p.Leu1092TrpfsTer?
NM_015040.3:c.3443del	NP_055855.2:p.Leu1148TrpfsTer?
XM_011510778.1:c.3479del	XP_011509080.1:p.Leu1160TrpfsTer?
XM_011510779.1:c.3479del	XP_011509081.1:p.Leu1160TrpfsTer?
XM_011510780.1:c.3476del	XP_011509082.1:p.Leu1159TrpfsTer?
XM_011510781.1:c.3461del	XP_011509083.1:p.Leu1154TrpfsTer?
XM_011510782.1:c.3479del	XP_011509084.1:p.Leu1160TrpfsTer?
XM_011510783.1:c.3311del	XP_011509085.1:p.Leu1104TrpfsTer?
XM_011510784.1:c.3308del	XP_011509086.1:p.Leu1103TrpfsTer?
XM_011510785.1:c.3293del	XP_011509087.1:p.Leu1098TrpfsTer?
XM_011510786.1:c.3188del	XP_011509088.1:p.Leu1063TrpfsTer?
XM_011510787.1:c.3185del	XP_011509089.1:p.Leu1062TrpfsTer?
XM_011510788.1:c.3152del	XP_011509090.1:p.Leu1051TrpfsTer?
XM_011510789.1:c.3002del	XP_011509091.1:p.Leu1001TrpfsTer?
XM_011510790.1:c.2486del	XP_011509092.1:p.Leu829TrpfsTer?
XM_011510791.1:c.2486del	XP_011509093.1:p.Leu829TrpfsTer?
XM_011510792.1:c.3479del	XP_011509094.1:p.Leu1160TrpfsTer?
XR_922888.1:n.3616del
XM_011510778.3:c.3479del	XP_011509080.1:p.Leu1160TrpfsTer?
XM_011510779.2:c.3479del	XP_011509081.1:p.Leu1160TrpfsTer?
XM_011510780.2:c.3476del	XP_011509082.1:p.Leu1159TrpfsTer?
XM_011510781.3:c.3461del	XP_011509083.1:p.Leu1154TrpfsTer?
XM_011510782.3:c.3479del	XP_011509084.1:p.Leu1160TrpfsTer?
XM_011510783.3:c.3311del	XP_011509085.1:p.Leu1104TrpfsTer?
XM_011510784.2:c.3308del	XP_011509086.1:p.Leu1103TrpfsTer?
XM_011510785.3:c.3293del	XP_011509087.1:p.Leu1098TrpfsTer?
XM_011510786.3:c.3188del	XP_011509088.1:p.Leu1063TrpfsTer?
XM_011510789.2:c.3002del	XP_011509091.1:p.Leu1001TrpfsTer?
XM_011510792.3:c.3479del	XP_011509094.1:p.Leu1160TrpfsTer?
XM_017003568.1:c.3425del	XP_016859057.1:p.Leu1142TrpfsTer?
XM_017003569.1:c.3257del	XP_016859058.1:p.Leu1086TrpfsTer?
XM_017003570.1:c.2984del	XP_016859059.1:p.Leu995TrpfsTer?
XM_017003571.1:c.2834del	XP_016859060.1:p.Leu945TrpfsTer?
XM_017003572.1:c.2486del	XP_016859061.1:p.Leu829TrpfsTer?
XM_017003573.1:c.2486del	XP_016859062.1:p.Leu829TrpfsTer?
XM_017003574.1:c.2486del	XP_016859063.1:p.Leu829TrpfsTer?
NM_015040.4:c.3443del MANE Select	NP_055855.2:p.Leu1148TrpfsTer?