Canonical Allele Identifier: CA2701566280
Gene: PIKFYVE HGNC NCBI

Linked Data

dbSNP Id: rs2125590672

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208326303del , CM000664.2:g.208326303del GRCh38
NC_000002.11:g.209191027del , CM000664.1:g.209191027del GRCh37
NC_000002.10:g.208899272del NCBI36
NG_021188.1:g.65037del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264380.9:c.3492del MANE Select ENSP00000264380.4:p.Asn1166IlefsTer?
ENST00000264380.8:c.3492del ENSP00000264380.4:p.Asn1166IlefsTer?
ENST00000452564.1:c.3324del ENSP00000405736.1:p.Asn1110IlefsTer?
NM_015040.3:c.3492del NP_055855.2:p.Asn1166IlefsTer?
XM_011510778.1:c.3528del XP_011509080.1:p.Asn1178IlefsTer?
XM_011510779.1:c.3528del XP_011509081.1:p.Asn1178IlefsTer?
XM_011510780.1:c.3525del XP_011509082.1:p.Asn1177IlefsTer?
XM_011510781.1:c.3510del XP_011509083.1:p.Asn1172IlefsTer?
XM_011510782.1:c.3528del XP_011509084.1:p.Asn1178IlefsTer?
XM_011510783.1:c.3360del XP_011509085.1:p.Asn1122IlefsTer?
XM_011510784.1:c.3357del XP_011509086.1:p.Asn1121IlefsTer?
XM_011510785.1:c.3342del XP_011509087.1:p.Asn1116IlefsTer?
XM_011510786.1:c.3237del XP_011509088.1:p.Asn1081IlefsTer?
XM_011510787.1:c.3234del XP_011509089.1:p.Asn1080IlefsTer?
XM_011510788.1:c.3201del XP_011509090.1:p.Asn1069IlefsTer?
XM_011510789.1:c.3051del XP_011509091.1:p.Asn1019IlefsTer?
XM_011510790.1:c.2535del XP_011509092.1:p.Asn847IlefsTer?
XM_011510791.1:c.2535del XP_011509093.1:p.Asn847IlefsTer?
XM_011510792.1:c.3528del XP_011509094.1:p.Asn1178IlefsTer?
XR_922888.1:n.3665del
XM_011510778.3:c.3528del XP_011509080.1:p.Asn1178IlefsTer?
XM_011510779.2:c.3528del XP_011509081.1:p.Asn1178IlefsTer?
XM_011510780.2:c.3525del XP_011509082.1:p.Asn1177IlefsTer?
XM_011510781.3:c.3510del XP_011509083.1:p.Asn1172IlefsTer?
XM_011510782.3:c.3528del XP_011509084.1:p.Asn1178IlefsTer?
XM_011510783.3:c.3360del XP_011509085.1:p.Asn1122IlefsTer?
XM_011510784.2:c.3357del XP_011509086.1:p.Asn1121IlefsTer?
XM_011510785.3:c.3342del XP_011509087.1:p.Asn1116IlefsTer?
XM_011510786.3:c.3237del XP_011509088.1:p.Asn1081IlefsTer?
XM_011510789.2:c.3051del XP_011509091.1:p.Asn1019IlefsTer?
XM_011510792.3:c.3528del XP_011509094.1:p.Asn1178IlefsTer?
XM_017003568.1:c.3474del XP_016859057.1:p.Asn1160IlefsTer?
XM_017003569.1:c.3306del XP_016859058.1:p.Asn1104IlefsTer?
XM_017003570.1:c.3033del XP_016859059.1:p.Asn1013IlefsTer?
XM_017003571.1:c.2883del XP_016859060.1:p.Asn963IlefsTer?
XM_017003572.1:c.2535del XP_016859061.1:p.Asn847IlefsTer?
XM_017003573.1:c.2535del XP_016859062.1:p.Asn847IlefsTer?
XM_017003574.1:c.2535del XP_016859063.1:p.Asn847IlefsTer?
NM_015040.4:c.3492del MANE Select NP_055855.2:p.Asn1166IlefsTer?