Allele Registry

Canonical Allele Identifier: CA10583969

Gene: PHIP HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr6:g.79025986del

GRCh37 chr6:g.79735703del

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000232097

RCV000656344

ClinVar Variation:

242322

dbSNP:

878854421

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79025988del , CM000668.2:g.79025988del	GRCh38
NC_000006.11:g.79735705del , CM000668.1:g.79735705del	GRCh37
NC_000006.10:g.79792424del	NCBI36
NG_051932.1:g.57313del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700012.1:c.797del	ENSP00000514753.1:p.Leu266TrpfsTer?
ENST00000700013.1:c.797del	ENSP00000514754.1:p.Leu266TrpfsTer?
ENST00000700114.1:c.719del	ENSP00000514808.1:p.Leu240TrpfsTer?
ENST00000700115.1:c.779del	ENSP00000514809.1:p.Leu260TrpfsTer?
ENST00000700118.1:c.779del	ENSP00000514810.1:p.Leu260TrpfsTer?
ENST00000700119.1:c.*590del	ENSP00000514811.1:n.*590del
ENST00000275034.5:c.779del MANE Select	ENSP00000275034.3:p.Leu260TrpfsTer?
ENST00000275034.4:c.779del	ENSP00000275034.3:p.Leu260TrpfsTer?
NM_017934.5:c.779del	NP_060404.3:p.Leu260TrpfsTer?
XM_005248729.3:c.779del	XP_005248786.1:p.Leu260TrpfsTer?
XM_011535917.1:c.779del	XP_011534219.1:p.Leu260TrpfsTer?
XM_011535918.1:c.263del	XP_011534220.1:p.Leu88TrpfsTer?
XM_011535919.1:c.779del	XP_011534221.1:p.Leu260TrpfsTer?
XR_942499.1:n.1005del
NM_017934.6:c.779del	NP_060404.4:p.Leu260TrpfsTer?
XM_005248729.5:c.779del	XP_005248786.1:p.Leu260TrpfsTer?
XM_011535918.3:c.263del	XP_011534220.1:p.Leu88TrpfsTer?
XM_017010989.2:c.-951del	XP_016866478.1:n.-951del
XM_017010990.2:c.-951del	XP_016866479.1:n.-951del
NM_017934.7:c.779del MANE Select	NP_060404.4:p.Leu260TrpfsTer?

Search 100 bp 5'

Search 100 bp 3'