Canonical Allele Identifier: CA16618331
Gene: PHIP HGNC NCBI

Linked Data

ClinVar Variation Id: 424321
ClinVar RCV Id: RCV000483999
dbSNP Id: rs1064796911
MyVariant Identifiers: chr6:g.79725393_79725394del (hg19) chr6:g.79015676_79015677del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.79015678_79015679del , CM000668.2:g.79015678_79015679del GRCh38
NC_000006.11:g.79725395_79725396del , CM000668.1:g.79725395_79725396del GRCh37
NC_000006.10:g.79782114_79782115del NCBI36
NG_051932.1:g.67622_67623del

Transcript Alleles

HGVS Amino-acid change
ENST00000700012.1:c.1360_1361del ENSP00000514753.1:p.Leu454GlufsTer18
ENST00000700013.1:c.1360_1361del ENSP00000514754.1:p.Leu454GlufsTer18
ENST00000700114.1:c.1282_1283del ENSP00000514808.1:p.Leu428GlufsTer18
ENST00000700115.1:c.1342_1343del ENSP00000514809.1:p.Leu448GlufsTer18
ENST00000700118.1:c.1381_1382del ENSP00000514810.1:p.Leu461GlufsTer18
ENST00000700119.1:c.*1153_*1154del ENSP00000514811.1:n.*1153_*1154del
ENST00000275034.5:c.1342_1343del MANE Select ENSP00000275034.3:p.Leu448GlufsTer18
ENST00000275034.4:c.1342_1343del ENSP00000275034.3:p.Leu448GlufsTer18
NM_017934.5:c.1342_1343del NP_060404.3:p.Leu448GlufsTer18
XM_005248729.3:c.1342_1343del XP_005248786.1:p.Leu448GlufsTer18
XM_011535917.1:c.1342_1343del XP_011534219.1:p.Leu448GlufsTer18
XM_011535918.1:c.826_827del XP_011534220.1:p.Leu276GlufsTer18
XM_011535919.1:c.1342_1343del XP_011534221.1:p.Leu448GlufsTer18
XR_942499.1:n.1568_1569del
NM_017934.6:c.1342_1343del NP_060404.4:p.Leu448GlufsTer18
XM_005248729.5:c.1342_1343del XP_005248786.1:p.Leu448GlufsTer18
XM_011535918.3:c.826_827del XP_011534220.1:p.Leu276GlufsTer18
XM_017010989.2:c.-388_-387del XP_016866478.1:n.-388_-387del
XM_017010990.2:c.-388_-387del XP_016866479.1:n.-388_-387del
NM_017934.7:c.1342_1343del MANE Select NP_060404.4:p.Leu448GlufsTer18
Search 100 bp 5'
Search 100 bp 3'