Canonical Allele Identifier: CA1640411180

Gene: PHIP

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79025584_79025586delinsTAG , CM000668.2:g.79025584_79025586delinsTAG	GRCh38
NC_000006.11:g.79735301_79735303delinsTAG , CM000668.1:g.79735301_79735303delinsTAG	GRCh37
NC_000006.10:g.79792020_79792022delinsTAG	NCBI36
NG_051932.1:g.57713_57715delinsCTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000700012.1:c.874_876delinsCTA	ENSP00000514753.1:p.Leu292=
ENST00000700013.1:c.874_876delinsCTA	ENSP00000514754.1:p.Leu292=
ENST00000700114.1:c.796_798delinsCTA	ENSP00000514808.1:p.Leu266=
ENST00000700115.1:c.856_858delinsCTA	ENSP00000514809.1:p.Leu286=
ENST00000700118.1:c.856_858delinsCTA	ENSP00000514810.1:p.Leu286=
ENST00000700119.1:c.*667_*669delinsCTA	ENSP00000514811.1:n.*667_*669delinsCTA
ENST00000275034.5:c.856_858delinsCTA MANE Select	ENSP00000275034.3:p.Leu286=
ENST00000275034.4:c.856_858delinsCTA	ENSP00000275034.3:p.Leu286=
NM_017934.5:c.856_858delinsCTA	NP_060404.3:p.Leu286=
XM_005248729.3:c.856_858delinsCTA	XP_005248786.1:p.Leu286=
XM_011535917.1:c.856_858delinsCTA	XP_011534219.1:p.Leu286=
XM_011535918.1:c.340_342delinsCTA	XP_011534220.1:p.Leu114=
XM_011535919.1:c.856_858delinsCTA	XP_011534221.1:p.Leu286=
XR_942499.1:n.1082_1084delinsCTA
NM_017934.6:c.856_858delinsCTA	NP_060404.4:p.Leu286=
XM_005248729.5:c.856_858delinsCTA	XP_005248786.1:p.Leu286=
XM_011535918.3:c.340_342delinsCTA	XP_011534220.1:p.Leu114=
XM_017010989.2:c.-874_-872delinsCTA	XP_016866478.1:n.-874_-872delinsCTA
XM_017010990.2:c.-874_-872delinsCTA	XP_016866479.1:n.-874_-872delinsCTA
NM_017934.7:c.856_858delinsCTA MANE Select	NP_060404.4:p.Leu286=