Canonical Allele Identifier: CA2578676299

Gene: PHIP

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79042887_79042888dup , CM000668.2:g.79042887_79042888dup	GRCh38
NC_000006.11:g.79752604_79752605dup , CM000668.1:g.79752604_79752605dup	GRCh37
NC_000006.10:g.79809323_79809324dup	NCBI36
NG_051932.1:g.40414_40415dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700012.1:c.576_577dup	ENSP00000514753.1:p.Tyr193CysfsTer4
ENST00000700013.1:c.576_577dup	ENSP00000514754.1:p.Tyr193CysfsTer4
ENST00000700114.1:c.498_499dup	ENSP00000514808.1:p.Tyr167CysfsTer4
ENST00000700115.1:c.558_559dup	ENSP00000514809.1:p.Tyr187CysfsTer4
ENST00000700118.1:c.558_559dup	ENSP00000514810.1:p.Tyr187CysfsTer4
ENST00000700119.1:c.*369_*370dup	ENSP00000514811.1:n.*369_*370dup
ENST00000700120.1:n.486_487dup
ENST00000275034.5:c.558_559dup MANE Select	ENSP00000275034.3:p.Tyr187CysfsTer4
ENST00000275034.4:c.558_559dup	ENSP00000275034.3:p.Tyr187CysfsTer4
NM_017934.5:c.558_559dup	NP_060404.3:p.Tyr187CysfsTer4
XM_005248729.3:c.558_559dup	XP_005248786.1:p.Tyr187CysfsTer4
XM_011535917.1:c.558_559dup	XP_011534219.1:p.Tyr187CysfsTer4
XM_011535918.1:c.42_43dup	XP_011534220.1:p.Tyr15CysfsTer4
XM_011535919.1:c.558_559dup	XP_011534221.1:p.Tyr187CysfsTer4
XR_942499.1:n.784_785dup
NM_017934.6:c.558_559dup	NP_060404.4:p.Tyr187CysfsTer4
XM_005248729.5:c.558_559dup	XP_005248786.1:p.Tyr187CysfsTer4
XM_011535918.3:c.42_43dup	XP_011534220.1:p.Tyr15CysfsTer4
XM_017010989.2:c.-1172_-1171dup	XP_016866478.1:n.-1172_-1171dup
XM_017010990.2:c.-1172_-1171dup	XP_016866479.1:n.-1172_-1171dup
NM_017934.7:c.558_559dup MANE Select	NP_060404.4:p.Tyr187CysfsTer4