Canonical Allele Identifier: CA1640421568

Gene: PHIP

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79043142_79043144delinsTAA , CM000668.2:g.79043142_79043144delinsTAA	GRCh38
NC_000006.11:g.79752859_79752861delinsTAA , CM000668.1:g.79752859_79752861delinsTAA	GRCh37
NC_000006.10:g.79809578_79809580delinsTAA	NCBI36
NG_051932.1:g.40155_40157delinsTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700012.1:c.458-141_458-139delinsTTA	ENSP00000514753.1:n.458-141_458-139delinsTTA
ENST00000700013.1:c.458-141_458-139delinsTTA	ENSP00000514754.1:n.458-141_458-139delinsTTA
ENST00000700114.1:c.380-141_380-139delinsTTA	ENSP00000514808.1:n.380-141_380-139delinsTTA
ENST00000700115.1:c.440-141_440-139delinsTTA	ENSP00000514809.1:n.440-141_440-139delinsTTA
ENST00000700118.1:c.440-141_440-139delinsTTA	ENSP00000514810.1:n.440-141_440-139delinsTTA
ENST00000700119.1:c.*251-141_*251-139delinsTTA	ENSP00000514811.1:n.*251-141_*251-139delinsTTA
ENST00000700120.1:n.368-141_368-139delinsTTA
ENST00000275034.5:c.440-141_440-139delinsTTA MANE Select	ENSP00000275034.3:n.440-141_440-139delinsTTA
ENST00000275034.4:c.440-141_440-139delinsTTA	ENSP00000275034.3:n.440-141_440-139delinsTTA
NM_017934.5:c.440-141_440-139delinsTTA	NP_060404.3:n.440-141_440-139delinsTTA
XM_005248729.3:c.440-141_440-139delinsTTA	XP_005248786.1:n.440-141_440-139delinsTTA
XM_011535917.1:c.440-141_440-139delinsTTA	XP_011534219.1:n.440-141_440-139delinsTTA
XM_011535918.1:c.-77-141_-77-139delinsTTA	XP_011534220.1:n.-77-141_-77-139delinsTTA
XM_011535919.1:c.440-141_440-139delinsTTA	XP_011534221.1:n.440-141_440-139delinsTTA
XR_942499.1:n.666-141_666-139delinsTTA
NM_017934.6:c.440-141_440-139delinsTTA	NP_060404.4:n.440-141_440-139delinsTTA
XM_005248729.5:c.440-141_440-139delinsTTA	XP_005248786.1:n.440-141_440-139delinsTTA
XM_011535918.3:c.-77-141_-77-139delinsTTA	XP_011534220.1:n.-77-141_-77-139delinsTTA
XM_017010989.2:c.-1290-141_-1290-139delinsTTA	XP_016866478.1:n.-1290-141_-1290-139delinsTTA
XM_017010990.2:c.-1290-141_-1290-139delinsTTA	XP_016866479.1:n.-1290-141_-1290-139delinsTTA
NM_017934.7:c.440-141_440-139delinsTTA MANE Select	NP_060404.4:n.440-141_440-139delinsTTA