Canonical Allele Identifier: CA1640421576
Gene: PHIP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.79043151_79043156delinsTTAAAG , CM000668.2:g.79043151_79043156delinsTTAAAG GRCh38
NC_000006.11:g.79752868_79752873delinsTTAAAG , CM000668.1:g.79752868_79752873delinsTTAAAG GRCh37
NC_000006.10:g.79809587_79809592delinsTTAAAG NCBI36
NG_051932.1:g.40143_40148delinsCTTTAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000700012.1:c.458-153_458-148delinsCTTTAA ENSP00000514753.1:n.458-153_458-148delinsCTTTAA
ENST00000700013.1:c.458-153_458-148delinsCTTTAA ENSP00000514754.1:n.458-153_458-148delinsCTTTAA
ENST00000700114.1:c.380-153_380-148delinsCTTTAA ENSP00000514808.1:n.380-153_380-148delinsCTTTAA
ENST00000700115.1:c.440-153_440-148delinsCTTTAA ENSP00000514809.1:n.440-153_440-148delinsCTTTAA
ENST00000700118.1:c.440-153_440-148delinsCTTTAA ENSP00000514810.1:n.440-153_440-148delinsCTTTAA
ENST00000700119.1:c.*251-153_*251-148delinsCTTTAA ENSP00000514811.1:n.*251-153_*251-148delinsCTTTAA
ENST00000700120.1:n.368-153_368-148delinsCTTTAA
ENST00000275034.5:c.440-153_440-148delinsCTTTAA MANE Select ENSP00000275034.3:n.440-153_440-148delinsCTTTAA
ENST00000275034.4:c.440-153_440-148delinsCTTTAA ENSP00000275034.3:n.440-153_440-148delinsCTTTAA
NM_017934.5:c.440-153_440-148delinsCTTTAA NP_060404.3:n.440-153_440-148delinsCTTTAA
XM_005248729.3:c.440-153_440-148delinsCTTTAA XP_005248786.1:n.440-153_440-148delinsCTTTAA
XM_011535917.1:c.440-153_440-148delinsCTTTAA XP_011534219.1:n.440-153_440-148delinsCTTTAA
XM_011535918.1:c.-77-153_-77-148delinsCTTTAA XP_011534220.1:n.-77-153_-77-148delinsCTTTAA
XM_011535919.1:c.440-153_440-148delinsCTTTAA XP_011534221.1:n.440-153_440-148delinsCTTTAA
XR_942499.1:n.666-153_666-148delinsCTTTAA
NM_017934.6:c.440-153_440-148delinsCTTTAA NP_060404.4:n.440-153_440-148delinsCTTTAA
XM_005248729.5:c.440-153_440-148delinsCTTTAA XP_005248786.1:n.440-153_440-148delinsCTTTAA
XM_011535918.3:c.-77-153_-77-148delinsCTTTAA XP_011534220.1:n.-77-153_-77-148delinsCTTTAA
XM_017010989.2:c.-1290-153_-1290-148delinsCTTTAA XP_016866478.1:n.-1290-153_-1290-148delinsCTTTAA
XM_017010990.2:c.-1290-153_-1290-148delinsCTTTAA XP_016866479.1:n.-1290-153_-1290-148delinsCTTTAA
NM_017934.7:c.440-153_440-148delinsCTTTAA MANE Select NP_060404.4:n.440-153_440-148delinsCTTTAA