Canonical Allele Identifier: CA1090913194

Gene: PHIP

Linked Data

• dbSNP Id: rs1772307111
• gnomAD v3: 6-79043142-TAA-T
• gnomAD v4: 6-79043142-TAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79043145_79043146del , CM000668.2:g.79043145_79043146del	GRCh38
NC_000006.11:g.79752862_79752863del , CM000668.1:g.79752862_79752863del	GRCh37
NC_000006.10:g.79809581_79809582del	NCBI36
NG_051932.1:g.40155_40156del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700012.1:c.458-141_458-140del	ENSP00000514753.1:n.458-141_458-140del
ENST00000700013.1:c.458-141_458-140del	ENSP00000514754.1:n.458-141_458-140del
ENST00000700114.1:c.380-141_380-140del	ENSP00000514808.1:n.380-141_380-140del
ENST00000700115.1:c.440-141_440-140del	ENSP00000514809.1:n.440-141_440-140del
ENST00000700118.1:c.440-141_440-140del	ENSP00000514810.1:n.440-141_440-140del
ENST00000700119.1:c.*251-141_*251-140del	ENSP00000514811.1:n.*251-141_*251-140del
ENST00000700120.1:n.368-141_368-140del
ENST00000275034.5:c.440-141_440-140del MANE Select	ENSP00000275034.3:n.440-141_440-140del
ENST00000275034.4:c.440-141_440-140del	ENSP00000275034.3:n.440-141_440-140del
NM_017934.5:c.440-141_440-140del	NP_060404.3:n.440-141_440-140del
XM_005248729.3:c.440-141_440-140del	XP_005248786.1:n.440-141_440-140del
XM_011535917.1:c.440-141_440-140del	XP_011534219.1:n.440-141_440-140del
XM_011535918.1:c.-77-141_-77-140del	XP_011534220.1:n.-77-141_-77-140del
XM_011535919.1:c.440-141_440-140del	XP_011534221.1:n.440-141_440-140del
XR_942499.1:n.666-141_666-140del
NM_017934.6:c.440-141_440-140del	NP_060404.4:n.440-141_440-140del
XM_005248729.5:c.440-141_440-140del	XP_005248786.1:n.440-141_440-140del
XM_011535918.3:c.-77-141_-77-140del	XP_011534220.1:n.-77-141_-77-140del
XM_017010989.2:c.-1290-141_-1290-140del	XP_016866478.1:n.-1290-141_-1290-140del
XM_017010990.2:c.-1290-141_-1290-140del	XP_016866479.1:n.-1290-141_-1290-140del
NM_017934.7:c.440-141_440-140del MANE Select	NP_060404.4:n.440-141_440-140del