Canonical Allele Identifier: CA2507021565

Gene: PHIP

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79025483_79025486del , CM000668.2:g.79025483_79025486del	GRCh38
NC_000006.11:g.79735200_79735203del , CM000668.1:g.79735200_79735203del	GRCh37
NC_000006.10:g.79791919_79791922del	NCBI36
NG_051932.1:g.57814_57817del

Transcript Alleles

HGVS	Amino-acid change
ENST00000700012.1:c.941+34_941+37del	ENSP00000514753.1:n.941+34_941+37del
ENST00000700013.1:c.941+34_941+37del	ENSP00000514754.1:n.941+34_941+37del
ENST00000700114.1:c.863+34_863+37del	ENSP00000514808.1:n.863+34_863+37del
ENST00000700115.1:c.923+34_923+37del	ENSP00000514809.1:n.923+34_923+37del
ENST00000700118.1:c.923+34_923+37del	ENSP00000514810.1:n.923+34_923+37del
ENST00000700119.1:c.*734+34_*734+37del	ENSP00000514811.1:n.*734+34_*734+37del
ENST00000275034.5:c.923+34_923+37del MANE Select	ENSP00000275034.3:n.923+34_923+37del
ENST00000275034.4:c.923+34_923+37del	ENSP00000275034.3:n.923+34_923+37del
NM_017934.5:c.923+34_923+37del	NP_060404.3:n.923+34_923+37del
XM_005248729.3:c.923+34_923+37del	XP_005248786.1:n.923+34_923+37del
XM_011535917.1:c.923+34_923+37del	XP_011534219.1:n.923+34_923+37del
XM_011535918.1:c.407+34_407+37del	XP_011534220.1:n.407+34_407+37del
XM_011535919.1:c.923+34_923+37del	XP_011534221.1:n.923+34_923+37del
XR_942499.1:n.1149+34_1149+37del
NM_017934.6:c.923+34_923+37del	NP_060404.4:n.923+34_923+37del
XM_005248729.5:c.923+34_923+37del	XP_005248786.1:n.923+34_923+37del
XM_011535918.3:c.407+34_407+37del	XP_011534220.1:n.407+34_407+37del
XM_017010989.2:c.-807+34_-807+37del	XP_016866478.1:n.-807+34_-807+37del
XM_017010990.2:c.-807+34_-807+37del	XP_016866479.1:n.-807+34_-807+37del
NM_017934.7:c.923+34_923+37del MANE Select	NP_060404.4:n.923+34_923+37del