Canonical Allele Identifier: CA1640421523
Gene: PHIP HGNC NCBI

Linked Data

dbSNP Id: rs1772302417

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.79043018_79043020del , CM000668.2:g.79043018_79043020del GRCh38
NC_000006.11:g.79752735_79752737del , CM000668.1:g.79752735_79752737del GRCh37
NC_000006.10:g.79809454_79809456del NCBI36
NG_051932.1:g.40282_40284del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700012.1:c.458-14_458-12del ENSP00000514753.1:n.458-14_458-12del
ENST00000700013.1:c.458-14_458-12del ENSP00000514754.1:n.458-14_458-12del
ENST00000700114.1:c.380-14_380-12del ENSP00000514808.1:n.380-14_380-12del
ENST00000700115.1:c.440-14_440-12del ENSP00000514809.1:n.440-14_440-12del
ENST00000700118.1:c.440-14_440-12del ENSP00000514810.1:n.440-14_440-12del
ENST00000700119.1:c.*251-14_*251-12del ENSP00000514811.1:n.*251-14_*251-12del
ENST00000700120.1:n.368-14_368-12del
ENST00000275034.5:c.440-14_440-12del MANE Select ENSP00000275034.3:n.440-14_440-12del
ENST00000275034.4:c.440-14_440-12del ENSP00000275034.3:n.440-14_440-12del
NM_017934.5:c.440-14_440-12del NP_060404.3:n.440-14_440-12del
XM_005248729.3:c.440-14_440-12del XP_005248786.1:n.440-14_440-12del
XM_011535917.1:c.440-14_440-12del XP_011534219.1:n.440-14_440-12del
XM_011535918.1:c.-77-14_-77-12del XP_011534220.1:n.-77-14_-77-12del
XM_011535919.1:c.440-14_440-12del XP_011534221.1:n.440-14_440-12del
XR_942499.1:n.666-14_666-12del
NM_017934.6:c.440-14_440-12del NP_060404.4:n.440-14_440-12del
XM_005248729.5:c.440-14_440-12del XP_005248786.1:n.440-14_440-12del
XM_011535918.3:c.-77-14_-77-12del XP_011534220.1:n.-77-14_-77-12del
XM_017010989.2:c.-1290-14_-1290-12del XP_016866478.1:n.-1290-14_-1290-12del
XM_017010990.2:c.-1290-14_-1290-12del XP_016866479.1:n.-1290-14_-1290-12del
NM_017934.7:c.440-14_440-12del MANE Select NP_060404.4:n.440-14_440-12del