Canonical Allele Identifier: CA2578676245

Gene: PHIP

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79025585del , CM000668.2:g.79025585del	GRCh38
NC_000006.11:g.79735302del , CM000668.1:g.79735302del	GRCh37
NC_000006.10:g.79792021del	NCBI36
NG_051932.1:g.57714del

Transcript Alleles

HGVS	Amino-acid change
ENST00000700012.1:c.875del	ENSP00000514753.1:p.Leu292HisfsTer22
ENST00000700013.1:c.875del	ENSP00000514754.1:p.Leu292HisfsTer22
ENST00000700114.1:c.797del	ENSP00000514808.1:p.Leu266HisfsTer22
ENST00000700115.1:c.857del	ENSP00000514809.1:p.Leu286HisfsTer22
ENST00000700118.1:c.857del	ENSP00000514810.1:p.Leu286HisfsTer22
ENST00000700119.1:c.*668del	ENSP00000514811.1:n.*668del
ENST00000275034.5:c.857del MANE Select	ENSP00000275034.3:p.Leu286HisfsTer22
ENST00000275034.4:c.857del	ENSP00000275034.3:p.Leu286HisfsTer22
NM_017934.5:c.857del	NP_060404.3:p.Leu286HisfsTer22
XM_005248729.3:c.857del	XP_005248786.1:p.Leu286HisfsTer22
XM_011535917.1:c.857del	XP_011534219.1:p.Leu286HisfsTer22
XM_011535918.1:c.341del	XP_011534220.1:p.Leu114HisfsTer22
XM_011535919.1:c.857del	XP_011534221.1:p.Leu286HisfsTer22
XR_942499.1:n.1083del
NM_017934.6:c.857del	NP_060404.4:p.Leu286HisfsTer22
XM_005248729.5:c.857del	XP_005248786.1:p.Leu286HisfsTer22
XM_011535918.3:c.341del	XP_011534220.1:p.Leu114HisfsTer22
XM_017010989.2:c.-873del	XP_016866478.1:n.-873del
XM_017010990.2:c.-873del	XP_016866479.1:n.-873del
NM_017934.7:c.857del MANE Select	NP_060404.4:p.Leu286HisfsTer22