Canonical Allele Identifier: CA2739289905

Gene: PHIP

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79042892_79042894del , CM000668.2:g.79042892_79042894del	GRCh38
NC_000006.11:g.79752609_79752611del , CM000668.1:g.79752609_79752611del	GRCh37
NC_000006.10:g.79809328_79809330del	NCBI36
NG_051932.1:g.40405_40407del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700012.1:c.567_569del	ENSP00000514753.1:p.Ser190del
ENST00000700013.1:c.567_569del	ENSP00000514754.1:p.Ser190del
ENST00000700114.1:c.489_491del	ENSP00000514808.1:p.Ser164del
ENST00000700115.1:c.549_551del	ENSP00000514809.1:p.Ser184del
ENST00000700118.1:c.549_551del	ENSP00000514810.1:p.Ser184del
ENST00000700119.1:c.*360_*362del	ENSP00000514811.1:n.*360_*362del
ENST00000700120.1:n.477_479del
ENST00000275034.5:c.549_551del MANE Select	ENSP00000275034.3:p.Ser184del
ENST00000275034.4:c.549_551del	ENSP00000275034.3:p.Ser184del
NM_017934.5:c.549_551del	NP_060404.3:p.Ser184del
XM_005248729.3:c.549_551del	XP_005248786.1:p.Ser184del
XM_011535917.1:c.549_551del	XP_011534219.1:p.Ser184del
XM_011535918.1:c.33_35del	XP_011534220.1:p.Ser12del
XM_011535919.1:c.549_551del	XP_011534221.1:p.Ser184del
XR_942499.1:n.775_777del
NM_017934.6:c.549_551del	NP_060404.4:p.Ser184del
XM_005248729.5:c.549_551del	XP_005248786.1:p.Ser184del
XM_011535918.3:c.33_35del	XP_011534220.1:p.Ser12del
XM_017010989.2:c.-1181_-1179del	XP_016866478.1:n.-1181_-1179del
XM_017010990.2:c.-1181_-1179del	XP_016866479.1:n.-1181_-1179del
NM_017934.7:c.549_551del MANE Select	NP_060404.4:p.Ser184del