Canonical Allele Identifier: CA913189705

Gene: PHIP

Linked Data

• ClinVar Variation Id: 627523
• ClinVar RCV Id: RCV000770907
• dbSNP Id: rs1562203136

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79042902_79042903insT , CM000668.2:g.79042902_79042903insT	GRCh38
NC_000006.11:g.79752619_79752620insT , CM000668.1:g.79752619_79752620insT	GRCh37
NC_000006.10:g.79809338_79809339insT	NCBI36
NG_051932.1:g.40396_40397insA

Transcript Alleles

HGVS	Amino-acid change
ENST00000700012.1:c.558_559insA	ENSP00000514753.1:p.Gly187ArgfsTer12
ENST00000700013.1:c.558_559insA	ENSP00000514754.1:p.Gly187ArgfsTer12
ENST00000700114.1:c.480_481insA	ENSP00000514808.1:p.Gly161ArgfsTer12
ENST00000700115.1:c.540_541insA	ENSP00000514809.1:p.Gly181ArgfsTer12
ENST00000700118.1:c.540_541insA	ENSP00000514810.1:p.Gly181ArgfsTer12
ENST00000700119.1:c.*351_*352insA	ENSP00000514811.1:n.*351_*352insA
ENST00000700120.1:n.468_469insA
ENST00000275034.5:c.540_541insA MANE Select	ENSP00000275034.3:p.Gly181ArgfsTer12
ENST00000275034.4:c.540_541insA	ENSP00000275034.3:p.Gly181ArgfsTer12
NM_017934.5:c.540_541insA	NP_060404.3:p.Gly181ArgfsTer12
XM_005248729.3:c.540_541insA	XP_005248786.1:p.Gly181ArgfsTer12
XM_011535917.1:c.540_541insA	XP_011534219.1:p.Gly181ArgfsTer12
XM_011535918.1:c.24_25insA	XP_011534220.1:p.Gly9ArgfsTer12
XM_011535919.1:c.540_541insA	XP_011534221.1:p.Gly181ArgfsTer12
XR_942499.1:n.766_767insA
NM_017934.6:c.540_541insA	NP_060404.4:p.Gly181ArgfsTer12
XM_005248729.5:c.540_541insA	XP_005248786.1:p.Gly181ArgfsTer12
XM_011535918.3:c.24_25insA	XP_011534220.1:p.Gly9ArgfsTer12
XM_017010989.2:c.-1190_-1189insA	XP_016866478.1:n.-1190_-1189insA
XM_017010990.2:c.-1190_-1189insA	XP_016866479.1:n.-1190_-1189insA
NM_017934.7:c.540_541insA MANE Select	NP_060404.4:p.Gly181ArgfsTer12