Canonical Allele Identifier: CA2679477365

Gene: PHIP

Linked Data

• gnomAD v4: 6-79043118-TTTCTGATATATATGGCTTCTAGTTAAAAGTCTTTAAAGTAATGAATAAAAACATTGTTTCACCTGAAATAAGTCAGGCACTATCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79043123_79043207del , CM000668.2:g.79043123_79043207del	GRCh38
NC_000006.11:g.79752840_79752924del , CM000668.1:g.79752840_79752924del	GRCh37
NC_000006.10:g.79809559_79809643del	NCBI36
NG_051932.1:g.40096_40180del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700012.1:c.458-200_458-116del	ENSP00000514753.1:n.458-200_458-116del
ENST00000700013.1:c.458-200_458-116del	ENSP00000514754.1:n.458-200_458-116del
ENST00000700114.1:c.380-200_380-116del	ENSP00000514808.1:n.380-200_380-116del
ENST00000700115.1:c.440-200_440-116del	ENSP00000514809.1:n.440-200_440-116del
ENST00000700118.1:c.440-200_440-116del	ENSP00000514810.1:n.440-200_440-116del
ENST00000700119.1:c.*251-200_*251-116del	ENSP00000514811.1:n.*251-200_*251-116del
ENST00000700120.1:n.368-200_368-116del
ENST00000275034.5:c.440-200_440-116del MANE Select	ENSP00000275034.3:n.440-200_440-116del
ENST00000275034.4:c.440-200_440-116del	ENSP00000275034.3:n.440-200_440-116del
NM_017934.5:c.440-200_440-116del	NP_060404.3:n.440-200_440-116del
XM_005248729.3:c.440-200_440-116del	XP_005248786.1:n.440-200_440-116del
XM_011535917.1:c.440-200_440-116del	XP_011534219.1:n.440-200_440-116del
XM_011535918.1:c.-77-200_-77-116del	XP_011534220.1:n.-77-200_-77-116del
XM_011535919.1:c.440-200_440-116del	XP_011534221.1:n.440-200_440-116del
XR_942499.1:n.666-200_666-116del
NM_017934.6:c.440-200_440-116del	NP_060404.4:n.440-200_440-116del
XM_005248729.5:c.440-200_440-116del	XP_005248786.1:n.440-200_440-116del
XM_011535918.3:c.-77-200_-77-116del	XP_011534220.1:n.-77-200_-77-116del
XM_017010989.2:c.-1290-200_-1290-116del	XP_016866478.1:n.-1290-200_-1290-116del
XM_017010990.2:c.-1290-200_-1290-116del	XP_016866479.1:n.-1290-200_-1290-116del
NM_017934.7:c.440-200_440-116del MANE Select	NP_060404.4:n.440-200_440-116del